As a doctor, I see many diseases and disorders that affect the body. Just a couple months ago a patient came in and he was the first patient I have ever diagnosed with Kennedy’s Disease. It is a very rare inherited neuromuscular disorder caused by a mutation of the AR gene. The AR gene is found on the X- chromosome. Normally the DNA sequence, CAG, is only repeated 17-34 times on the AR gene but certain mutations cause it to be repeated additional times. When the sequence is repeated more than 35 times, the result is Kennedy’s Disease. The severity of the disease increases with the more unnecessary repetitions there are present on the gene. The disease is recessive and linked to the X- chromosome therefore men can have the disease by inheriting just one mutated X- chromosome, where as women would need to inherit two mutated X- chromosomes to have the disease. Therefore, women are usually carriers of Kennedy’s Disease and pass it on to their sons, who would then actually have the disease.
My patient, Kyle, was single male, in fairly good shape, and was 42 years old. He complained of muscle weakness in his legs as well as small muscle contractions in the arms and legs. He informed me these symptoms had begun about a year ago but he hadn’t injured himself in anyway that should have caused such muscle weakness or contractions. After genetic counseling, genetic testing was done and I was able to diagnosis Kyle with Kennedy’s Disease. Being that this was my very first patient with Kennedy’s Disease, I did extra research on the disorder so I was able to fully prepare Kyle for what to expect in the future.
Most people suffering from Kennedy’s Disease will begin to experience symptoms between ages 20-50. Kyle didn’t experience any symptoms until his forties which was lucky considering some suffer as early as age 20. Kyle complained of muscle weakness in the legs which is a very common symptom of Kennedy’s Disease. Muscle weakness and muscle atrophy will occur most often in the proximal regions, close to or in the trunk of the body. Small muscle contractions in the arms, legs, and trunk are also common symptoms, along with muscle cramps and hand tremors. Five to ten years after experiencing arm and leg symptoms, Kyle’s medullar oblongata may be affected by the disease leading to weakness in facial muscles, tongue and face twitches and difficulty in speech and swallowing. Increased risk of contracting pneumonia is a common issue due to troubles swallowing. Kennedy’s disease may also result in insensitivity to male hormone in which the patient may have enlarged breast glands and impaired sex functions. Half of those who suffer from Kennedy’s Disease have reduced sex drive, infertility, impotence, or shrunken testicles. Diabetes eventually shows up in ten percent of those with Kennedy’s Disease as well. Kyle was glad to hear, however, that Kennedy’s Disease is slow to progress and life expectancy is not affected directly from the disease.
There are no body defenses against the disorder nor are there any treatments to cure Kennedy’s Disease. Though, medications, surgeries and therapies can ease the symptoms. For example, a speech therapist can help when the patient faces difficulty in speech and swallowing. Enlarged breasts can be surgically removed and medications can be prescribed for pain, increasing testosterone levels, relaxing muscles, etc. Certain stretching exercises or seeking aid from physical therapists can help with muscle issues. Eventually the Kyle may need to use a cane, walker, or wheelchair when muscles in the leg become too weak to walk.
All this news obviously came as a shock to Kyle because he had been living with Kennedy’s Disease now for 42 years and had no idea. He asked me if there was any way his parents could have prevented him from acquiring the disorder. The answer is yes, genetic counseling and testing of the parents before conceiving the child would allow them to figure out the chances of their son or daughter having Kennedy’s Disease. Kyle informed me he was not a planned pregnancy so this was probably not an option for his parents.
When I finished filling Kyle in on his newfound disorder, he shook my hand with a smile on his face and said, “Well this is a relief, I wasn’t suspecting such good news!” I must have looked puzzled because he continued to explain, “Yeah it may be a little inconvenient as I grow older, but it’s not going to kill me and that’s news worth smiling about.”
I would have never guessed that this would happen to me. I would have never thought that I could be the cause of my own son’s demise. It only happened by chance that we were even able to figure this out. My poor unborn baby.
My name is Jamie Lane and I have been pregnant for about 3 months now. I did not even think of testing for an inherited disorder in my own genes until I read about it online. I met with my doctor last weekend and he took a karyotype, or picture of my chromosomes when I went for genetic counseling. That was when I found out that I was the carrier of Becker Muscular Dystrophy. This is an X-linked recessive inherited disorder which explains why my first child, Cassie, did not have it. She is also a carrier for this disorder as I have now learned. As carriers, Cassie and I have an increased risk for dilated cardiomyopathy, but otherwise, we are unaffected unlike my unborn baby boy.
Becker Muscular Dystrophy is the slow progressive muscle weakness of mostly the legs and pelvis. It is a type of dystrophinopathy, which is the deficiency of dystrophin produced in muscle cells, resulting in instability in the structure of the muscle cell membrane. Ultimately, the deficiency is caused by mutations in the dystrophin gene, which encodes the dystrophin protein. If the DMD mutation was found in a family member of mine or if informative linked markers were identified, the disorder could have been identified earlier by prenatal testing such as amniocentesis or chorionic villus sampling. However, a significant number of the mutations are spontaneous and not inherited from a parent.
Symptoms of males with Becker Muscular Dystrophy usual appear from the ages 8 to 25. The rare severe form (which I cannot bear to think of my own son having) may inhibit males to lose the ability to walk as early as 15. To identify this disorder, there are a number of symptoms involving the muscles. Males with this disorder will have muscle weakness in activities, severe upper extremity and trunk weakness, frequent falls, difficulty breathing, skeletal and muscle deformities, fatigue, heart disease, and elevated CPK levels in the blood. Toe-walking may occur because of lack of muscle strenght. Additionally, the calf muscles will enlarge during the ages of 5-15, in order to compensate for the loss of muscle strenth; however, the muscle will turn into fat and connective tissue as the male loses the ability to walk. Furthermore, one may experience painful muscle contractions. I cannot even fathom my own son enduring these symptoms.
The diagnosis for this disorder is made by identifying the mutation early, or by noticing the symptoms that I have previously mentioned. Also, there may be a lack of pectoral and upper arm muscles in those with this disease. Furthermore, it can be identified by electromyography which identifies the destruction of muscle tissue. A muscle biopsy or blood test can also give confirmation of the diagnosis.
I am sorry to say that there is no tratment that can be provided to rid of these symptoms. The treatment can only control symptoms and maximize life quality. Activity is encouraged, such as physcial therapy and orthopedic appliances may also be helpful. Immunosupressant steroids like Prednisone will slow the progression of BMD because it increases the production of the protein utrophin, which resembles Dystrophin.
Becker Muscular Dystrophy will slowly progress, and most males will use a wheelchair or cane eventually. Their lifestyles will go on, with only active movements impaired. This gives me hope for my child, for I know that he will still be able to live a normal childhood. He may not be able to play regularly with the other children, but he can still partake in activites for the impaired, which settles my mind if only just a little
When my patient Christina came into my office, the first thing I noticed was that she was pregnant. She told me that she had begun vomiting recently, and had seen redness around her abdomen, and had pain there as well. Although the vomiting had not concerned me, as she was pregnant and vomiting is a common side effect of pregnancy, the abdominal pain had concerned me. Obviously, I had to take action immediately, as I did not want anything to happen to her baby. I asked her a few questions, and found out that Christina was 37, and this was her third child.
I performed a physical evaluation and discovered what I had thought it was–diastasis recti. Christina’s abdomen was splitting down the middle. Instead of her two abdominal muscles being joined in the middle along the linea alba, the muscles had split into a right half and a left half, having no connection whatsoever. Because of the expansion of the uterus because of her pregnancy, the linea alba had begun to stretch until it could no longer stretch anymore, and it had simply begun to tear. Christina’s condition had made sense, being as she had had multiple births, and her body had experienced 2 other episodes of this stretching in her other pregnancies. I also found that like many diastasis patients, Christina’s uterus could be seen bulging through the abdominal wall.
I explained to Christina that this is a completely cosmetic condition and will not result in mortality, and also that there is no need for treatment while she is still pregnant. After she gives birth to her baby, however, there is the option of surgery known as a tummy tuck. In this case, it creates a fold on the linea alba and then sutures the two halves together to make them whole again. This way, Christina will have a tighter abdominal wall, but also will not be recommended to have anymore kids, as it could result in a second tearing.
My name is Leiomyosarcoma, you can call me Leo for short though. Most people are not a fan of me and my profession. I am an aggressive soft tissue sarcoma, and I like to make a home in the uterine, gastrointestinal, or any other soft tissue area of the human body. Sarcomas like myself are malignant tumors, we are comprised of a heterogeneous group of cancers. Of all soft tissue sarcomas, about 5-10% are leiomysarcomas, like me. Now, there are no specific diagnoses for leiomysarcoma that distinguish my tumors from any other soft tissue sarcomas. Women are affected much more than men, and usually these masses show up during people’s 50’s and 60’s. Estrogen seems to be a leading cause of my formation, therefore that is the reason I show up much more in women than in men. However, there is no exact known cause for why I show up in the body’s soft tissue. We Leiomysarcomas often present ourselves as an enlarging, painless mass. When I make myself at home on a major blood vessel, symptoms of vascular compromise or leg edema may occur, as well as neurological symptoms such as numbness from a close nerve. If you think I may be making a home inside of you, your doctor can put you through many different types of tests such as, endoscopy, hysteroscopy, ultrasound, CT scan, MRI, or a biopsy. Prognosis and treatment vary on the location, stage and grade of the tumor. The usual treatment for me includes surgery and radiotherapy. Chemotherapy may also be used. So, if you have a lump, swelling, abdominal discomfort, abdominal bloatedness, swelling and pain in the body, go see your doctor because I may be growing and making your soft tissue my home.
Hello, name is Jessica. I am a neurologist, and specialize in muscle disease. Today, one of my patients, Julie, came in complaining of muscle stiffness, cramps, slow relaxation, excessive sweating, muscle quivering and twitching, and fatigue. When I asked here where the stiffness was she told me mostly in her calves, legs, occasionally face and neck and other areas but they do not occur as often. My first reaction when Julie told me all of this was she has Isaacs’ synodrome (also known as Neuromyotonia, NMT for short). When Julia seemed alarmed, I explained to her that even though is currently no known cure, the condition is treatable. Before I gave her any medicines, I wanted to confirm that she had Isaacs’ syndrome. I decided to start off with a basic neurological exam which includes coordination, strength, reflexes and sensation. After the exam, I chose to run a few tests including blood work and MRI’s. After the tests I was pretty sure that she has Isaacs’ but I wanted to run a couple more specialized tests. Isaac’s is characterized electromyographically by doublet, triplet, or multiplet single unit discharges that have high, irregular intrabursts frequently. There I ran test like the EMG/NCS, a chest CT (just to rule out paraneoplastic) and specific blood work testing looking for voltage-gates channel antibodies, acetylcholine receptor antibody, and serum immunofixation (TSH, ANA, ESR etc.). After I was able to confirm that Julie had Isaac’s, her first question was “how did I get it?”. I explained that Isaac’s was either acquired, paraneoplastic, or hereditary. I also told her that chances are that the form of Isaac’s that she had was most likely acquired because it is the most common form, 80% of all cases are acquired. That that the diagnosis was confirmed, the next step would be the treatment. I gave Julie anticonvulsants, including phenytoin and carbamazepine to relieve the muscle stiffness, spasms, and pain. I told her if continued to have symptoms to come back for a plasma exchange and IVIg treatment, and that Botox injections may also provide short term relief. When Julia asked why she might need a plasma exchange I told her that the exchange is believed to cause an interference with the function of the voltage- dependent potassium channels. When Julie asked if there is anything she can do to help her body fight off the disease I explained of evidence suggests that Isaac’s syndrome is an autoimmune disease, meaning the immune system is impaired and attacks the body’s own tissues, so there really isn’t much she can do to help her body fight off Isaac’s. When Julie seemed so upset, I told her just to relax because there wasn’t very much that she could’d done to prevent Isaac’s besides having a healthy life style, not putting her health at risk, and staying away from toxic chemicals.
Hello my name is Dr. Smith and I recently had a patient who was diagnosed with one of the rarest diseases. Sarah, the 2 year old patient, has Forbes Disease or Glycogen Storage Disease Type III. Her parents knew there was something wrong when her abdomen was swollen at just 3 months old. Sarah’s liver was swollen causing the swelled abdomen. Having my PH.D, I know that her liver enlargement may subside with puberty, but no one can tell for sure how long this will go and it could lead to permanent liver damage. However, this disease usually attacks and weakens the muscles. Sarah, for a short period of time, experienced some delayed growth but is now back to the regular growth pattern. Oh I almost forgot to mention, Forbes Disease is an inherited condition in which the deficiency of an enzyme called glycogen disbranching enzyme results in various complications, notably involving the liver and muscles. The lack of this enzyme means the body cannot properly break down glycogen, a stored form of sugar. As a result, glycogen cannot properly be used to energize the body and glycogen molecules accumulate in the body. Unfortunately, Sarah can never be rid of this disease because there is no treatment. We will monitor the liver, heart, and muscles in affected people and recommend physical therapy when necessary to promote better movement. Frequent small meals and a high-protein diet may also be beneficial. Most children like Sarah will make it until adulthood. However, Liver disease and muscle weakness may contribute to a cause of death long-term.
I cannot believe it. My child is dying right before my eyes. Brandon is only eight months old and as I watch him on life support in the hospital, I realize my mistakes. I should have had genetic testing done when I was pregnant. Maybe then I would have known that both my husband and I were carriers of the mutated gene known as survival motor neuron gene 1, or SMN1. This gene is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. I also should have said something when I thought my son was barely moving in the womb. One day he just stopped kicking all together.
When I did give birth, everything went as planned. I gave birth to him naturally and everything seemed okay. That is, until I took Brandon home. Feeding him was the most difficult part. SMA Type 1, or infant SMA causes weakness of the muscles of the lips, the tongue and the pharynx. Brandon also has problems with his saliva. He often chokes on it and is vulnerable to both saliva and food entering the trachea rather than the esophagus. He does not gain enough weight and is too skinny.
Another thing I noticed is that Brandon was weaker than I thought he should be after he was home for a few weeks. He could not sit up or hold his head up on his own. By now, he should be walking, but he cannot even crawl. I walk over to him propped up on his pillow in the hospital crib, straighten his head for him and unwrap the feeding tube from his arm. I kiss him on the forehead before I return to the chair.
Hearing the ventilator wheeze, I again recall his difficulties at home. The muscles in Brandon’s chest wall are very weak. He had an unusual breathing pattern, and his stomach was always pumping in and out. It was impossible for him to take deep enough breaths. The doctors quickly diagnosed him after I brought him into hospital when he showed increased difficulty one night. The concave chest and limited movement served in the aid of this diagnosis. There is no medicine for my son. All I can do is blame myself for putting Brandon through this. I don’t want to lose my son, but he doesn’t even seem alive. The machines are the only thing keeping him alive.
I am woken from my stupor as one of Brandon’s monitors begins to beep. He is coughing and spitting up saliva. All I can do is watch with tears running down my face as the nurses surround him.
It was a busy Monday as usual. I was typing the plans for my latest project when my arms felt weak. I took a short break from my work thinking that the weakness was caused by the constant movement of my fingers over the keys of my keyboard. I got back to work. Towards the end of my work day, I found myself very tired; the weakness was still vacant in my arms. I called in sick the next day and went to the doctor. I told my doctor that I was feeling more tired than usual and that I could barely move my arms. He asked me when I first noticed the weakness. He also asked if my condition developed gradually or if it came suddenly. I answered all of his questions as best as I could. The doctor told me that he was not 100% positive but he thought I had polymyositis, an inflammatory muscle disease that causes weakness of the skeletal muscle. He told me that along with the physical exam, I would need an MRI, an electromyography, and blood tests. After my results came in and the doctor was sure I had polymyositis, I was prescribed corticosteroids. The doctor continued to tell me that there was no cure for polymyositis and that there was no known cause of the disease. The doctor said that because I was a 39 year old African-American woman, I had a higher chance of contracting polymyositis. Polymyositis can occur at any age, but the disease mostly affects adults in their 30s, 40s, and 50, though it is more common in African-Americans. Women are affected more than men are. My doctor has put me on a high dose of corticosteroids to start, but as my symptoms decrease, so will the dose of medicine.
Everyday hundreds of people walk through my door in need of my help. They may walk out satisfied, upset, or heartbroken but every single one of them is different. As a doctor, it is my job to successfully diagnose and treat each case specially and treat the patient like they are family. Today, a fairly new mother was coming in with her daughter due to muscular dystrophy. After a multitude of tests were done we discovered that there was an irregular, bumpy shape of the laminopathic nuclei. Erin’s daughter has a rare genetic disorder known as a laminopathy.
To go farther in detail, laminopathies are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Laminopathies symptoms may include skeletal and/or cardiac muscular dystrophy, lipodystrophy, displasia, and progeria. Most symptoms develop after birth but may lead to an early death. Fortunately, Mckayla, Erin’s daughter, does not have a laminopathy caused by a mutation in lamin B. Laminopathies caused by mutations in lamin B are typically lethal before or at birth.
The laminopathy Mckayla has been diagnosed with currently has no treatment so there is not much a doctor like me can do for a patient like her. The only way to possibly help laminopathy is through physical therapy and/or corrective surgery is the patient undergoes muscular dystrophy. We don’t know what the road ahead will look like but I will do anything I can to diminish Mckayla’s pain and help her get through this rough time.
Hello, my name is Dr. John. I have recently been introduced to a muscle disorder called distal muscular dystrophy. This disorder is caused because of a genetic mutation. Usually distal dystrophy is inherited in an autosomal dominant pattern, but some follow a recessive pattern of inheritance. I, as the doctor of a patient who has recently found out that she has this, have had to do some research on it. The following is what I have found out.
Distal Muscle disorder targets the lower part of your arms. I have found out that a symptom of this disorder is mainly the weakening of the lower parts of the arms. My patient even tough in the early stages of the disorder will soon notice a decrease in size of her arms. The muscle will slowly disappear making it painful just too even lift her arms. This is the only symptom that will occur. I was able to diagnosis her with this disorder by first performing some physical tests. These include lifting a weight and I look for a pattern of weakness. Once I saw that I asked my patient to go and get a special blood test done to measure her amount of CK. CK stands for creatine kinase, an enzyme that leaks out of damaged muscle. My patients levels of CK were high therefore suggesting she has some type of muscular dystrophy but not exactly pin pointing the exact one. The next thing I ordered was a muscle biopsy. That is when I was able to get my answer that my patient has distal muscular dystrophy.
My patient than asked me some very serious questions. The first is there anyway of her body to fight this. My answer was no. Yet, there is a way to treat it. I helped her find an occupational therapist that would help her make the most out of her day to day activities such as opening a door or lifting a bowl to the top shelf of the cabinet. Lastly, she wanted to know if she could have prevented the disorder. Once again I had to answer with no. Distal muscular dystrophy is inherited trough genetics. At the end of her last visit with me I assured her that living with distal muscular dystrophy isn’t always easy but I would try my best to make her life as livable as possible. I told her that she should live everyday like she never even knew she had this disorder.
My name is Jane and I am 45 years old. I have three children and lead a normal, active, healthy life. I thought nothing could go wrong, and then I began to feel weak in my knees, hands, ankles, muscles, etc. My muscles were always stiff and it seemed as though I couldn’t relax my muscles. I thought I was just being sick and took it easy on myself. Eventually, I began experiencing debilitating GI pain. I couldn’t swallow, I had severe acid reflex, and I always felt sick. After several months of pushing these symptoms aside, I decided to go to the doctor.
After several months of testing, the doctors connected the GI pain and my muscle issues to one diagnosis – Myotonia, or Myotonic Dystrophy. The most common effects of DM are muscle problems, including muscular weakness, trouble relaxing a muscle, and muscle wasting that gets worse over time. However, it is misleading to think of DM as only a muscle disorder because it also affects other body functions, including the heart, lungs, and gastrointestinal system. The disorder can also cause problems with cognitive function, personality, and vision. Not everyone with DM will have all or even most of the possible symptoms, which is why it is often hard to diagnose.
Myotonic Dystrophy is an inherited disorder that is passed through generations. The mutated DM gene is passed from parent to child. People with DM have one normal copy of the DM gene and one copy with the mutated gene. The parent has a 50% chance of passing on the mutated gene to their child. People who receive the mutated gene will have the disease, although they may not show symptoms for many years.
Unfortunately there is no cure for DM and it is a degenerative disease, meaning that my symptoms will worsen over time. There is also no way to slow down this progression. On the bright side, there are ways to manage the many symptoms of my disorder. Medications, therapy, and surgeries have greatly improved my life in dealing with DM. My three children will be tested for DM to ensure that they do not have the disease. Luckily, early detection can be a life saver.
Today is the day I will permanently affect my host and his muscular system for the rest of his life. My name is facioscapulohumeral muscular dystrophy or FHS for short. I am an autosomal dominant genetic disease that affects the muscles in the face, skull, and upper arms. I am also the third most common genetic muscle disease in the world; 7 out of 100,000 people will have me. Today I was born with an infant, but the infant and his parents will not know about me until his teen days. Symptoms of my disease usually appear before the age of 20. I affect chromosome 4, creating deletions in the D4Z4 gene. All the symptoms are permanent due to the chromosomal affects. I only have to wait several years for my disease to take over my host’s body.
Today my host turned 15 and his parents have recently detected me. Over the last few months, my host has begun to lose hearing in his ear and has obtained retinal telangiectasia, or reddings blood vessels in the eyes. Soon other symptoms like shoulder weakness, facial muscle weakness, abnormal heart rhythm, loss of abdominal strength, and unequal weakness in the upper arm region. These symptoms most likely will lead to a permanent life in a wheel chair. Due to this being a genetic disease, the body cannot fight back or help the muscles in its growth or strength.
The parents of my host found out through several tests by their doctor. One test is called creatine kinase which measures the creatine kinase enzyme in the blood. Another test is called electromyogram where the electrical activities in the muscles are measured. If any levels of these substances are off, then the doctor could properly diagnosis the host I am living in. There are no treatments for me except for physical therapy and other processes that can help increase muscle strength in the effected muscles. There is no prevention for me due to it being a genetic disease. The parents of my host could have gone to gene therapy and saw prior to my host’s birth if he had the disease, but they did not. Now my host will have to live with me forever but luckily, my host should expect a full life expectancy.
Greetings Homo sapiens! Let me introduce myself. I am primary lateral sclerosis or as my friends call me, PLS for short. I’ve recently been looking for a new home and many of the homes that are attracting my interest are juveniles who have a mutation in the ALS2 gene. The mutation in this gene causes a lack of the protein alsin which often is found in motor neurons. I don’t get along with alsin so a home without it is ideal. I’ve also considered a select few adult houses but I won’t reveal what it is that interests me. The only information that I will reveal is that I’m not inherited by the adult houses. Some may describe me as a messy person. I don’t take very good care of my things especially my home. Once I move in I cause weakness in the voluntary muscles and the breakdown of nerve cells. The realtors often refer to me as a motor neuron disease, but I am not fatal to my house. They often confuse me for my good friend ALS though and he is fatal to his home. I may be destructive, but I can keep my house orderly for about 40 to 60 years. It is around then that I begin my harmful ways on my house, but it takes me a long time to progress. My house begins to really recognize my presence when I cause stiffness and weakness in the legs. This often leads to my house to fall and lose balance. The longer I stay the more the weakness progresses. The trunk, arms, and legs become progressively weaker. Soon the jaw and the tongue are then affected. My harm causes my home to have slurred and slow speech and difficulty swallowing and breathing. Because I am so overpowering, my house cannot fight back. It is at this point that the relators try to evict me. However, they can’t do so until they have proof of me being an unfit homeowner. They often run blood tests, MRIs to reveal nerve degeneration, EMGs to evaluate the electrical activity, spinal taps to out rule other diseases, and PET scans to reveal degenerative changes in the brain. Once I am proven to be unfit, the relators cannot get rid of me however hard they try. Nothing they can do can make me leave my home. However, the relators often try to prescribe medication like baclofen and zanaflex to relieve muscle spasticity. They also prescribe physical therapy and speech therapy. A cane, walker, or wheelchair is also often used. No home can prevent me from moving in because as a muscular disease, I have the right to choose whatever home I want.
Arthrogryposis. A minute ago I had never heard of this muscular disease, now here I am, standing over my newborn baby who has it. I wish there was some way I could have prevented it, but how could I prevent something whose cause isn’t definite? Some people believe that Arthrogryposis, or Arthrogryposis Multiplex Congenita, is caused by insufficient room in the uterus which makes it so the fetus cannot have normal movements. Others believe it is caused by malfunctions and malformations of the nervous system such as spina bifida, spinal muscular atrophy, or it could be caused by neuro-muscular disorders like, myasthenia gravis, myotonic dystrophy, or multiple sclerosis. Many also believe it is caused by maternal illness like German measles during pregnancy or a maternal fever above 102.2 F for a long interval of time, or raised body temperature caused due to long-drawn-out soaking in hot tubs. It is also believed that Arthrogryposis can be contracted by the fetus if it is exposed to harmful agents such as alcohol, drugs or phenytoin, or if they have muscle deformities or neurological defects. As soon as my little angel was born the doctor knew something wasn’t right so he did an examination of my baby and look at his joints and other body systems. Common symptoms of this disease are deformed wrists and ankles, immovable arm and leg joints, weakness, thinness, or even absent muscles of the arms and legs, and dislocated hips. However, since my baby is an infant, he showed different symptoms such as facial deformities, abnormalities of the curvature of the spine, cardiac and respiratory issues, genital anomalies and skin defects. The doctor reassured me, however, that my baby’s case was not too severe. He also told me out that although Arthrogryposis is not curable, it is treatable through the use of physiotherapy, the selective use of surgery and orthosis. With these treatments, my child can live a full and active life. I held my baby, and knew that everything was going to be ok.
Ever since I was a child, doctors told me there was something different and unique about me. When I was younger, doctors used to examine me at least once a week, writing down all the new characteristics they have discovered about me. At that time, I didn’t really understand why all of this was happening. After all, I didn’t think anything was terribly wrong with me, besides the fact that doctors put me on a pedestal. It all began to make sense once I was able to comprehend that I was different from everyone else; I had Emery-Dreifuss muscular dystrophy.
At first, Emery-Dreifuss muscular dystrophy meant nothing to me; it went in one ear and out the other. As I began to understand the disease more, I knew this was going to be hard to live with every single day. At a young age, my joints began to lock up at random times throughout the day and I was stuck in a fixed position. The first time it happened, I was the most scared I have ever been. I felt helpless and I had no idea how to fix this. After a few minutes, though, my joints began to loosen and I was able to move again. What a relief! These lock joints began in common joints such as my neck, arms and legs, but then progressed into my hips and shoulders. My muscle tone was also a lot less developed than people my age. I thought I was just weak at first, but then the doctors told me this was a common sign of my disease. Who wants to live with a weak muscle tone? Not me, for sure.
As I began to grow older, doctors monitored me more closely every day. Slowly, by age 18, they noticed problems with my heart. The cardiac muscles were not working properly and did not provide enough blood to the rest of my body. They told me this would result in fainting spells occasionally. The fainting wasn’t as bad as the shortness of breath was. It was hard for me to simply walk up the stairs without getting winded. I asked the doctors what they could do, and sadly they said nothing. Now I sit here on a heart monitor, taking pills by the thousands just to ensure my heart doesn’t stop beating. This rare disease, Emery-Dreifuss muscular dystrophy, has taken over my daily life.
Hi, My name is Fran and I am a first year medical student. I knew I wanted to be a doctor since the day I turned 13 years old. My mother was a neurologist who specialized in muscular disorders. Every day after school my bus would drop me off at her office and I would just sit and read all the books in her library. From basic anatomy to genetic diseases, my mother had a book everything and all things medical. On the day of my 13th birthday, my mother had a meeting at the local hospital. The bus dropped me off as usual and I sat in the waiting room and read a book about the brain. I sat down next to a girl about my age. She looked a lot like me but had a sad look in her eyes, as if she’s been battling an illness for a while. She said her name was Laurel and that she has a form of Non-dystrophic Myotonia call Congenital Mytonia. I looked at her with a peculiar face, as I’ve never heard of this disease. She then smiled and further explained her ailment with me.
“ I have Congenial myotonia, which means the disease was present at birth. I inherited the autosomal recessive form of this genetic mutation. It is caused by a mutation in CLCN1 gene, specifically the part that encodes the ClC-1 Chloride channel. This results in muscle fiber membranes to have an exaggerated response to stimulation. However, it never became prevalent until I was about 8 or 9. The main symptom of the disease is caused by voluntary movements, especially, trying to perform strenuous activity after a long period of rest. In my case, most often my legs are affected. It often results in falling. However, I’ve learned that it is possible to combat this disease by a phenomenon called warm up. For example, I love to play soccer, but it takes a lot out of me. But if I contract my muscles 5-10 ten times, the stiffening of my legs will be relieved for a little while.”
“ To be honest, I’m not ashamed of my illness. In fact, I embrace it. There is hope for me, as it is likely that my myotonia will stable out by the time in college. The future is bright for me, and I expect it will be for you too.”
From that point on, I knew what I wanted to do. I wanted to change people’s lives, I wanted to make a difference, I indeed wanted to be a doctor.
Inclusion-Body Myositis (IBM)
I really feel the need to bring my uncle to the doctor. He has been getting weaker and weaker, by the day it seems. It doesn’t appear natural. I need a trained physician to take a look at him and diagnose him as soon as possible. I’m going to bring him to the doctor tomorrow morning; I cannot wait any longer.
Well I just dropped him off at the hospital, and the staff said they were going to run a bunch of tests on him, so I’ll go back in a few hours. Test results would be back from the lab by the time I return as well.
Well, it was a good thing I brought him to the hospital. The tests came back and it turns out he has inclusion-body myositis, or IBM. It is an inflammatory muscular disease, characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs. The doctor also specified that he had a more unique type of the disease known as sporadic inclusion body myositis, or sIBM. In sIBM muscle, two processes, one autoimmune and the other degenerative, appear to occur in the muscle cells at the same time. T cells are multiplied and begin to break down the muscle fibers, and begin to swell in the muscles as well. The doctor also told me how this type of disease is prevalent in men over the age of 50. The men continue to get weaker and weaker until normal functions aren’t possible. They will need to be cared for by another individual and be in a wheelchair for the rest of their life after about 5-10 years after the diagnosis.
He asked to have a word with me in private after having a long conversation with my uncle and I a few minutes earlier. He had to tell me that he had no idea how the disease is caused, and there is no known cure for it. All that can be done is frequent physical therapy, and a hope that it will be mild. He explained that the disease just had to run its course. Unfortunately, we cannot do anything to help him.
By: Jeremy Nowling
Over the past few days, I have come to realize that my best friend and coworker, Jenny, seems to be very depressed and socially isolated. It has been about a month since she found herself in a very terrible car accident. Today, she seemed very tired and unable to concentrate on any of her work. I felt very bothered by the fact that my best friend could be going through a trauma as a result of the accident and I was not doing anything to help her with it. At lunch that day, I decided to reach out to her and find out what the problem was.
I approached her and after a brief conversation, I found out that Jenny had been to the hospital about a week ago and the doctor had diagnosed her with fibromyalgia. She complained about being unable to sleep and do anything else because she was always in pain. Even as I tried to pat her on the arm in an attempt to console her, she flinched and pulled back. I then asked her not to worry and that I was going to be there to give her the support she needed.
Later that night, upon my arrival home from work, Jenny’s issue was still on my mind and it made me very restless. I then went online to find out more information about fibromyalgia and also to find ways by which I could support Jenny. I found out that fibromyalgia is a disorder characterized by widespread musculoskeletal pain and accompanied by fatigue, sleep, memory and mood issues. Although the cause is not known, there appears to be many factors that often trigger its onset. These include genetics, infections (bacterial or viral), physical or emotional trauma, or the development of another disorder, such as rheumatoid arthritis, lupus, or hypothyroidism.
It is believed that fibromyalgia amplifies painful sensations by affecting the way the brain processes pain signals. Because repeated nerve stimulation causes the brains of people with fibromyalgia to change, there is no definite way for the body to defend itself against this disorder. Anyone, including children, can get fibromyalgia but it is most common in middle-aged women, between the ages of 25 and 60. Symptoms include abdominal pain, chronic headaches, dryness in mouth, nose, and eyes, hypersensitivity to cold and/or heat, inability to concentrate (or “fibro fog”), irritable bowel syndrome, numbness or tingling in the fingers and feet, stiffness, fatigue, anxiety, depression and widespread body pains.
Diagnoses of fibromyalgia include tests like Lyme titers, blood tests to check antinuclear antibodies, rheumatoid factor, erythrocyte sedimentation rate, complete blood count, prolactin, calcium, and vitamin D levels, and thyroid function tests. Doctors may also refer to the medical history of the patient’s family or perform a physical exam of tender points. This refers to the checking of pain at tender point locations like the back of the head, between shoulder blades, top of shoulders, front sides of neck, upper chest, elbows, hips and inner knees.
I also discovered that although there is no cure for fibromyalgia, there are treatments that can help manage the symptoms. Medications for the treatment of fibromyalgia include analgesics, antidepressants like Cymbalta and Savella and anti-seizure drugs like Lyrica. These medications can help promote sleep and reduce pain. Alternative treatments include clinician-assisted treatments, such as hypnosis, acupuncture, therapeutic massage, aerobic exercise and chiropractic manipulation for relief. Getting enough sleep, exercising, reducing stress, eating well and maintaining a healthy lifestyle may also help to prevent fibromyalgia.
After finding all the information I needed to know about fibromyalgia, I felt more confident about giving Jenny the support she needed because I understood what she was going through.
Congenital muscular dystrophy comes at birth and symptoms show before the age of 2. Congenital means genetic and is given down by the parents. CMD involves muscle weakness and poor muscle tone, occurring in both girls and boys. In rare cases, CMD can cause learning or intellectual disabilities. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment. The person with congenital muscular dystrophy has trouble keeping balance, trouble running, Learning disabilities, and difficulty getting up from a lying or sitting position. CMD includes a number of autosomal recessive diseases of muscle weakness and possible joint deformities. Most forms of CMD are inherited in an autosomal recessive pattern. A diagnosis of CMD can be confusing because for many years the term was used as a “catch-all” name to describe conditions that looked like other muscular dystrophies, but started much earlier or followed different patterns of inheritance. CMD can cause contractures in the wrists, ankles and other joints. The matrix is the substance that surrounds the cells of a tissue, such as muscle, providing physical and biochemical support, and when the CMD is infected in the matrix it destroys the matrix and making it weaker and unable to perform its tasks in the body. For a muscle to pull against bones, it needs to have contact with something that transmits force from the muscle fibers onto the tendons and bones which is where the matrix comes into play in the body. The matrix is a key supporting structure for the survival and regeneration of muscle. When cells lose touch with their surrounding matrix is when the congenital muscular dystrophy comes out.
Sports and other physical activities are very popular amongst young kids, teenagers, and young adults. When asked what’s your favorite class in school many middle and high schoolers will say “Gym for sure.” Once a toddler learns to walk, he will not stop running or jumping. But, 1 in 3,600 boys have Duchenne muscular dystrophy which is a recessive X-linked disorder. The disorder is prompted by a mutation in the dystrophin gene, the largest gene located on the X chromosome, which codes for the protein dystrophin. Dystrophin is a protein within muscle tissue that provides structural stability. This disorder is a progressive muscle weakness in the legs and pelvis. The muscle weakness spreads to the arms and neck and is very hard to deal with. It is a crippling disorder that eventually leads to a very premature death.
This mutation is carried by both genders, however, females rarely show signs of the disease. Symptoms usually appear in male children before the age of six. Although visible and obvious signs can be seen around the age of 6, testing can identify the children who carry the mutation at birth. Early signs include enlargement of the calf and deltoid muscles, low endurance, and difficulties in standing. To diagnosis this disease, a muscle biopsy is ordered. The doctors take a sample of muscle out and study the levels of dystrophin protein. The doctor stains the sample of the muscle with a special dye and it shows the level of dystrophin. There are other ways of diagnosing this disorder like genetic testing, family history, and blood creatine kinase concentration.
By the age of 10, braces to assist walking properly are needed. And usually shortly after the braces, the boy’s condition is getting progressively worse and paralysis sets in. A wheelchair is needed at the age of 12. Because this is a genetic disorder, you cannot prevent this disorder once it is diagnosed.
This disorder causes bone deformities and spine abnormalities. Surgery on the spine is usually necessary to prevent further complications. Along with regular surgeries and doctor visits, many medications are prescribed. Breathing is very irregular causing the heart to be enlarged. Patients with Duchenne muscular dystrophy may need a heart transplant. Steroids are prescribed to improve muscle strength and function. A physical therapist does many stretches and exercises to help build muscle and prolong the inevitable weakening muscles.
This disorder is very aggressive and destructive. Although there are many medications, surgeries, and strengthening exercises, the disease is so aggressive that it overcomes any medication and thus putting the patient in a wheelchair by the sixth grade. These boys long to participate in gym or a sport but their main concern is living to see the next day. To live this kind of life is a struggle and the boys and their families should be commended for the constant fight against this unforgiving disease. Do not take anything for granted and love the sports you play because for some even just to walk is a longing.
I am Distal Muscular Dystrophy. I come in many different forms but I am inherited when there is a mutation in the DNA. The most common form that I come in is autosomal dominate, but also inherited and show a recessive pattern. For signs and symptoms of me to show you need two copies of this gene. Each of your parents may have one gene and show no signs and symptoms at all. The first symptoms of me are weakened and distal muscles. In areas like the hands, feet, lower arms, and lower legs. The least affected area is the hips and shoulders and areas closest to these body parts. But over time other areas will be affected. But I will never attack the brain. I may not show right at an early age; sometimes I take a while to come out. I may affect swallowing muscles, speaking muscles, and in some cases even the heart. When I am being diagnosed first the doctor will do a physical examination and go through the family history. The doctor will also check if I am affecting your muscle controlling nerves. Also there is special blood test called a CK level. This checks to see if the muscles are destroying themselves or if the disorder is taking over the muscles. The doctor may also want to take a sample of the muscle from an exact area where there is muscle weakening. The doctor will examine it and then can see exactly what is happening inside the muscle and at this point, if not so already, the doctor will diagnosis you with Distal Muscular Dystrophy and a specific type. There is no specific treatment for this but there are some drugs that show they will help with the muscles weakening and pain. Going to physical therapy and strengthening the muscles is very helpful. In some very severe cases some people may need surgery. To relieve tension on the muscles by cutting tendons and bracing them in a normal resting position while the muscles regrow. Also occupational therapy, nutrition, cardiac care, and respiratory care are very important for people who have me. There is no way to prevent this from happening because it is inherited. But being tested before having kids is always a good idea to know if they are at risk for inheriting this.
Hi my name is Janet and I have recently been diagnosed with Chronic Compartment Syndrome. I have just gotten out of my first surgery and the doctors said that the surgery went well. Chronic Exertion Compartment Syndrome is caused by repetitive impact on the legs due to exercise or other constant pressure on your legs. With high level of exercise, your blood supply is increased for the muscles being used during exercise. In my case, my connective tissue that holds my muscle fibers together in a compartment does not expand, causing pressure to build up in my compartments and cut off my blood supply. Considering I am a serious college cross country runner, you can understand how I have acquired this disease. My symptoms began with aching, tightness in my lower legs, numbness, weakness, and swelling. I attempted to take off two weeks because I thought my body was simply run down from so much training, but when I started running again, the symptoms returned. My coach scheduled a doctor’s appointment and I went to see what was going on with my lower legs. My doctor initially mistook my disease for shin splints, but after having an MRI done, I learned that I have acquired Chronic Exertion Compartment Syndrome. My body did not have any way of fighting off this disease, and I allowed the disease to progress to the point where I needed to have surgery to open the fascia to decompress the muscle compartments. The surgery was a success and if I keep up with my recovery, I should be back to running at the level I used to in a year or so. Although there is no guaranteed prevention, it is healthy to warm up before exercise, cool down after exercise, eat healthy, stay hydrated, and listen to your body and stop if you’re in pain. I now know to use my body as a guide and not make this mistake again because it may cost my career if I do.
On a daily basis, I see many patients come in with various diseases. You’d be surprised. Today, one woman came in with Dermatomyositis (DM). This disease is a connective tissue disease related to polymyositis, which is characterized by inflammation of the skin and muscles. While DM most frequently affects the skin and muscles, it is a systemic disorder that may also affect the joints, the esophagus, the lungs, and, the less commonly, the heart. Although the cause is unknown, it may result from either a viral infection or an autoimmune reaction. Many people diagnosed with DM were previously diagnosed with infectious mononucleosis and Epstein-Barr virus. Some cases of DM actually “overlap” other autoimmune diseases such as lupus, or vasculitis. Many other doctors, including myself, suspect that several cases of DM were triggered by the use of various statin drugs used to control blood cholesterol. Muscle biopsies of patients showed rhabdomyolysis, and degeneration and regeneration of muscle tissue. Also, some cases have been known to be caused by the presence of caner. There are many treatments today, such as: prednisone, intravenous immunoglobulin, plasmapheresis, and chemotherapies, but, it is important that treatment begins as soon as possible. DM occurs more commonly in females. It presents as a scaly, or red patches overlying the knuckles, elbows, and knees. Other indications are a purple rash over the upper eyelids. Patients with this disease have muscle weakness and may not be able to complete simple, everyday tasks. Depending on the severity, patients could have little to no pain, or in severe cases, extreme pain. Paralyzation is possible, but is temporary. DM is a scary disease, and I would recommend highly that if you experience any of these symptoms that you see a doctor like myself immediately!
It was when my daughter, Anna, could not get out of bed to get ready for school on a day in early December that I realized how out of it I had been. Anna was 10 years old and perfectly independent, but if I hadn’t been so preoccupied over the final stages of my divorce and in my own little depression, I would have seen the signs. She told me later that she didn’t want to tell me about her bluish purple discoloration on certain parts of her skin or the slight tenderness in her muscles all over her body because she didn’t want to stress me out more. However, I should have also seen how tired she had been, or how she had been losing weight slowly.
At the doctors, we were told right away that Anna had dermatomyositis, which is an inflammatory muscle disease characterized by an irregular skin rash. The irregularity of the skin rash is how the doctor was able to diagnose her so quickly but she had to be positive by getting an MRI, muscle biopsy and a blood analysis. The causes of this disease are unknown but since it shares many characteristics with autoimmune disorders, Anna was given corticosteroids for treatment. Corticosteroids will not cure her disease but it will suppress her immune system, limiting production of antibodies and reducing the inflammation of the muscles, improving muscle function. As long as she is treated, her condition will improve but it will not go away. The disease can also cause other conditions if not treated such as connective tissue disorders, cardiovascular disease, lung disease and cancer.
My name is Rhabdomyolysis. I am an evil disease in which I take over your body and the breakdown of muscle fibers leads to the release of muscle fiber contents into the bloodstream. These fibers are called myoglobin and are very harmful to the kidney. Myoglobin in released when there is muscle damage and when I take over the body, I force the myoglobin through the body in which the kidneys filter it. Also any other of my friends who are conditions that damage skeletal muscle help me take over the body.
The human knows that I am a part of them when they start realizing abnormal urine color, weakness, stiffness and aching, tenderness to the muscles, joint pain, and in serious conditions, seizures. Those are only the symptoms of me and the doctors really catch me when they run creatin kinase tests, serum calcium tests, urinalysis, and urine myoglobin tests.
To get rid of me, there are bicarbonate fluids that may prevent the kidney damage. Doctors can also preform kidney dialysis. The faster they realize that the kidney is in danger, and the faster they cure the kidney, the less serious I will have affected the human. If they kick me out fast enough, the person was lucky and would return to normal activities after less than a month. Although, there may be signs of fatigue and muscle pain, they will be okay.
The only way to stop me ladies and gentleman is by drinking plenty of fluids that will flush out the myoglobin after extraneous exercise. Look out!
The truth is that I do not have any place that I can say I am from. Humans do not know what I am caused by. I am Myasthenia Gravis, which is a neuromuscular disease that involves muscles and the nerves that control them. I am an autoimmune disorder in which the immune system mistakenly attacks perfectly healthy tissue; I am misunderstood obviously. As the immune system attacks the good guys, it produces antibodies that block muscle cells from receiving messages from the nerve cell causing a variety of symptoms.
These symptoms include breathing, chewing and swallowing problems, difficulty talking, drooping head, weakness of facial muscles, fatigue, changing voice, double vision and drooping eyelids.
Tests that can diagnose me are a regular physical exam that can show the tenderness of the muscles but MRI or CT scans, nerve conduction tests and EMGs need to be done to see the full scope of damage I could be causing to diagnose it.
There is no cure for me, but unfortunately, treatment can cause remission of the symptoms. However, when I am back from remission, I am not any easier on the symptoms, more like hungry for more. Treatment can be changing daily activities like putting aside resting time or staying away from stress and heat, which make symptoms worse. Medications can also be prescribed to make the connection between the nerves and muscles better and to suppress the antibodies of the immune system if the symptoms I cause are too severe.
My name is Anne and I am a prospective occupational therapy student. Colleges want me to complete at least forty hours of shadowing before my application is completed, so I got in contact with an OT at Sensational Therapies in Short Hills, NJ. The facility specializes in pediatric sensory integration. The toddlers who came in appeared healthy, but after working with them for a few minutes, I realized that many of them lacked the ability to even sit up straight. When the first interactive appointment was over, I asked the OT about the child’s strange habits of slouching and refusing to sit cross-legged. She explained that he had Hypotonia, or low muscle tone. The problem with Hypotonia is that it is easily recognized (like in the previous appointment), but it is difficult to find the underlying problem. I learned that this muscle condition can be caused by a variety of reasons including genetic and developmental. As a result, it cannot be prevented or cured. However, muscle tone can be improved. When thinking back at the previous appointment, I remembered that the OT had the child swinging on the monkey bars, reaching up high for a ball, and wrapping his legs around the indoor swing. All of these exercises targeted specific muscle groups. As a result of a sensory processing disorder, the child had developmental delays in fine motor skills and speech, resulting in Hypotonia. After observing this difference from their first child, the parents brought the kid in to the OT facility to be checked out. Simply through observation, the Hypotonia was found. I hope that in six years, I will be able to help children with Hypotonia and other muscular disorders.
Hi, my name is Jim McCole. I am a 43 year old man who recently was diagnosed with Rhabdomyolysis. Rhabdomyolysis is the rapid destruction of skeletal muscle resulting in leakage into the urine of the muscle protein myoglobin. You would think that having this disease isn’t something big but can potentially be life threatening. Most men and women notice symptoms before great damage is done to the body.
I happen to be slightly overweight so I have been working out in the gym for quiet sometime now. In the first months of my training I injured my shoulder. I remember feeling great pains through my arm, but never thought anything of it. Little did I know that my muscle was slowly becoming worse. I started showing symptoms of my disease such as abnormal urine color (dark, red, or cola colored), decreased urine production, general weakness, muscle stiffness or aching (myalgia), muscle tenderness, weakness of the affected muscles.
Rhabdomyolysis is a dangerous disease because it can cause kidney damage. Kidney damage can be extremely fatal. Kidneys are a very important aspect to being able to live. Treatment of this disease is by getting fluids that contain bicarbonate to may prevent kidney damage by quickly flushing myoglobin out of the kidneys. Fluids may need to be given through a vein (by IV). Some patients may need kidney dialysis. Medicines that may be prescribed include diuretics and bicarbonate.