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Dystrophy

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Last Updated: 02 July 2021

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General | Latest Info

Duchenne Muscular Dystrophy, sometimes shortened to DMD or just Duchenne, is a rare genetic disease. It primarily affects males, but, in rare cases, can also affect females. Duchenne causes muscles in the body to become weak and damaged over time, and is eventually fatal. Genetic changes that cause Duchenne mutation in DMD gene happen before birth and can be inherit, or new mutations in gene can occur spontaneously. Learn more about the genetics behind Duchenne. You 'll often hear Duchenne Muscular Dystrophy and Becker Muscular Dystrophy speak about together. Bmd is another type of Muscular Dystrophy with symptoms like Duchenne, but it is a milder form. Bmd is also caused by change to gene for dystrophin, but people with BMD make abnormal but working version of dystrophin. This still results in muscle weakness and damage, but it is less severe and worsens more slowly than in Duchenne.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

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Types

Table

TypeAge at onsetSymptoms, rate of progression, and life expectancy
Beckeradolescence to early adulthoodSymptoms are almost identical to Duchenne, but less severe; progresses more slowly than Duchenne; survival into middle age. As with Duchenne, disease is almost always limited to males.
CongenitalbirthSymptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span.
Duchenne2 to 6 yearsSymptoms include general muscle weakness and wasting; affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20s is rare. Seen in boys only. Very rarely can affect woman, who have much milder symptoms and a better prognosis.
Distal40 to 60 yearsSymptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progression is slow; rarely leads to total incapacity.
Emery-Dreifusschildhood to early teensSymptoms include weakness and wasting of shoulder, upper arm, and shin muscles; joint deformities are common; progression is slow; sudden death may occur from cardiac problems.
Facioscapulohumeralchildhood to early adultsSymptoms include facial muscle weakness and weakness with some wasting of shoulders and upper arms; progression is slow with periods of rapid deterioration; life span may be many decades after onset.
Limb-Girdlelate childhood to middle ageSymptoms include weakness and wasting, affecting shoulder girdle and pelvic girdle first; progression is slow; death is usually due to cardiopulmonary complications.
Myotonic20 to 40 yearsSymptoms include weakness of all muscle groups accompanied by delayed relaxation of muscles after contraction; affects face, feet, hands, and neck first; progression is slow, sometimes spanning 50 to 60 years.
Oculopharyngeal40 to 70 yearsSymptoms affect muscles of eyelids and throat causing weakening of throat muscles, which, in time, causes inability to swallow and emaciation from lack of food; progression is slow.

Different types of muscular dystrophy affect different sets of muscles and cause different degrees of muscle weakness. Duchenne muscular dystrophy, is the most common form of muscular dystrophy. It gradually makes the body's muscles weaker. Becker muscular dystrophy, which causes less severe symptoms than Duchenne MD. Myotonic dystrophy, also know as Steinert's disease, is the most common adult form of MD, although half of all cases are diagnosed in people under 20 years old. The main symptoms include muscle weakness, myotonia, and muscle wasting. Limb - girdle muscular dystrophy affects boys and girls equally. Symptoms usually start when kids are between 8 and 15 years old. This form progresses slowly, affecting pelvic, shoulder, and back muscles. Severity of muscle weakness varies. Some kids have only mild weakness while others develop severe disabilities and, as adults, need to use a wheelchair. Facioscapulohumeral muscular dystrophy can affect both boys and girls, and symptoms usually first appear during teen years. It tends to progress slowly. Muscle weakness first develops in the face, making it difficult for children to close their eyes, whistle, or puff out their cheeks. Shoulder and back muscles gradually become weak, and kids have trouble lifting objects or raising their hands overhead. Over time, legs and pelvic muscles also may lose strength.


What Is Muscular Dystrophy?

Muscular dystrophy is caused by defects in certain genes, with type determined by abnormal gene. In 1986, researchers discovered a gene that, when defective or flaw, causes Duchenne muscular dystrophy. In 1987, muscle protein associated with this gene was named dystrophin. Duchenne muscular dystrophy occurs when that gene fails to make dystrophin. Becker muscular dystrophy occurs when a different mutation in the same gene results in some dystrophin, but it's either not enough or it's poor in quality. Scientists have discovered and continue to search for genetic defects that cause other forms of muscular dystrophy. Most muscular dystrophies are form of inherited disease called X - link disorders or genetic diseases that mothers can transmit to their sons even though mothers themselves are unaffected by disease. Men carry one X chromosome and one Y chromosome. Females carry two X chromosomes. Thus, in order for a girl to become affected by muscular dystrophy, both of her X chromosomes would have to carry defective gene - an extremely rare occurrence, since her mother would have to be a carrier and her father would have to have muscular dystrophy. A female who carries a defective X chromosome can pass disease to her son. Few muscular dystrophies aren't inherited at all and occur because of new gene abnormality or mutation.

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Table2

TypeAge at onsetSymptoms, rate of progression, and life expectancy
Beckeradolescence to early adulthoodSymptoms are almost identical to Duchenne, but less severe; progresses more slowly than Duchenne; survival into middle age.
CongenitalbirthSymptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span.
Duchenne2 to 6 yearsSymptoms include general muscle weakness and wasting; affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20s is rare.
Distal40 to 60 yearsSymptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progression is slow; rarely leads to total incapacity.
Emery-Dreifusschildhood to early teensSymptoms include weakness and wasting of shoulder, upper arm, and shin muscles; joint deformities are common; progression is slow; sudden death may occur from cardiac problems.
Facioscapulohumeralchildhood to early adultsSymptoms include facial muscle weakness and weakness with some wasting of shoulders and upper arms; progression is slow with periods of rapid deterioration; life span may be many decades after onset.
Limb-Girdlelate childhood to middle ageSymptoms include weakness and wasting, affecting shoulder girdle and pelvic girdle first; progression is slow; death is usually due to cardiopulmonary complications.
Myotonic20 to 40 yearsSymptoms include weakness of all muscle groups accompanied by delayed relaxation of muscles after contraction; affects face, feet, hands, and neck first; progression is slow, sometimes spanning 50 to 60 years.
Oculopharyngeal40 to 70 yearsSymptoms affect muscles of eyelids and throat causing weakening of throat muscles, which, in time, causes inability to swallow and emaciation from lack of food; progression is slow.
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Symptoms

Many kids with Muscular Dystrophy follow a normal pattern of development during their first few years of life. But in time, they develop problems with movement. A child who has MD may start to stumble, waddle, have difficulty going up stairs, and toe walk. A child may start to struggle to get up from a sitting position or have a hard time pushing things, like wagon or tricycle. Kids with MD often develop enlarged calf muscles as muscle tissue is destroyed and replaced by fat.


What Is Muscular Dystrophy?

Muscular dystrophy is a group of diseases that make muscles weaker and less flexible over time. It is caused by problem with genes that control how the body keeps muscles healthy. For some people, diseases start early in childhood. Others do not have any symptoms until they are teenagers or middle - age adults. How muscular dystrophy affects you or your child depends on kind. Most peopleas conditions will get worse over time, and some people may lose the ability to walk, talk, or care for themselves. But that does happen to everyone. Other people can live for many years with mild symptoms. There are more than 30 kinds of muscular dystrophy, and each is different based on: genes that cause its muscles to affect age when symptoms first appear. How quickly disease gets worse, People usually get one of nine major forms of disease: Duchenne muscular dystrophy is the most common form. It mainly affects boys, and starts between ages 3 and 5. Becker muscular dystrophy is like Duchenne, except milder. It also affects boys, but symptoms start later - between the ages of 11 and 25. Myotonic muscular dystrophy is the most common form in adults. People who have it can't relax their muscles after they contract. It can affect both men and women, and it usually starts when people are in their 20s. Congenital muscular dystrophy starts at birth or shortly afterwards. Limb - Girdle muscular dystrophy often starts in a person's teens or 20s. Facioscapulohumeral muscular dystrophy affects muscles of the face, shoulders, and upper arms. It can affect anyone from teenagers to adults in their 40s. Distal muscular dystrophy affects muscles of arms, legs, hands, and feet. It usually comes on later in life, between the ages of 40 and 60. Oculopharyngeal muscular dystrophy starts in their 40s or 50s. It causes weakness in muscles of the face, neck, and shoulders, and droopy eyelids, followed by difficulty swallowing. Emery - Dreifuss muscular dystrophy affects mainly boys, usually starting around age 10. People with this form often have heart problems along with muscle weakness. There are many treatments that can help keep muscles strong and flexible, and scientists are looking for new ones, too. The important thing is to get the treatment you need and find support.

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Causes

Main forms of muscular dystrophy may affect up to 1 in every 5 000 males. The most common form is Duchenne muscular dystrophy. It typically affects young boys, but other variations can strike in adulthood. Muscular dystrophy is caused by genetic mutations that interfere with production of muscle proteins that are needed to build and maintain healthy muscles. The causes are genetic. A family history of muscular dystrophy will increase the chance of it affecting an individual. There is currently no cure, but certain physical and medical treatments can improve symptoms and slow progression. Muscular dystrophy is caused by mutations on the X chromosome. Each version of muscular dystrophy is due to different set of mutations, but all prevent the body from producing dystrophin. Dystrophin is a protein essential for building and repairing muscles. Duchenne muscular dystrophy is caused by specific mutations in the gene that encodes cytoskeletal protein dystrophin. Dystrophin make up just 0. 002 percent of total proteins in striated muscle, but it is an essential molecule for general functioning of muscles. Dystrophin is part of an incredibly complex group of proteins that allow muscles to work correctly. Protein helps anchor various components within muscle cells together and links them all to sarcolemma - outer membrane. If dystrophin is absent or deform, this process does not work correctly, and disruptions occur in the outer membrane. This weakens muscles and can also actively damage muscle cells themselves. In Duchenne muscular dystrophy, dystrophin is almost totally absent; less dystrophin produce, worse symptoms and etiology of disease. In Becker muscular dystrophy, there is a reduction in the amount or size of dystrophin protein. Gene coding for dystrophin is the largest known gene in humans. More than 1 000 mutations in this gene have been identified in Duchenne and Becker muscular dystrophy.


What is muscular dystrophy?

Muscular dystrophy is a group of inherited diseases in which muscles that control movement progressively weaken. In some forms of this disease, heart and other organs are also affect. Myotonic Duchenne Becker Limb - girdle Facioscapulohumeral Congenital Oculopharyngeal Distal Emery - Dreifuss muscular dystrophy can appear in infancy up to middle age or later, and its form and severity are determined in part by the age at which it occur. Some types of muscular dystrophy affect only males; some people with MD enjoy normal life span with mild symptoms that progress very slowly; others experience swift and severe muscle weakness and wasting, dying in their late teens to early 20s. Various types of MD affect more than 50 000 Americans. Through advances in medical care, children with muscular dystrophy are living longer than ever before.

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Complications

Some people with Muscular Dystrophy eventually need to use a wheelchair. Trouble using arms. Daily activities can become more difficult if muscles of arms and shoulders are affect. Shortening of muscles or tendons around joints. Contractures can further limit mobility. Breathing Problems. Progressive weakness can affect muscles associated with breathing. People with Muscular Dystrophy might eventually need to use breathing assistance device, initially at night but possibly also during day. Curve spine. Weaken muscles might be unable to hold the spine straight. Heart Problems. Muscular Dystrophy can reduce the efficiency of heart muscle. Swallowing Problems. If muscles involved with swallowing are affect, nutritional problems and aspiration pneumonia can develop. Feeding tubes might be an option.


TREATMENT

No medical cure exists for this congenital dystrophy, and the disease has poor prognosis. Treatment is center on glucocorticoid therapy, prevention of contractures, and medical care of cardiomyopathy and respiratory compromise. Glucocorticoid therapy decreases the rate of apoptosis of myotubes and can decelerate myofiber necrosis. Prednisone is used in patients four years and older in whom muscle function is declining or plateauing. Prednisone is recommended at dosage Deflazacort, oxazoline derivative of prednisone, is sometimes preferred over prednisone as it has a better side effect profile and has an estimated dosage equivalency of 1: 1. 3 compared with prednisone. Recommended dosage is 0. 9 mg / kg / day. Studies have shown that glucocorticoid treatment is associated with improved pulmonary function, delay development of scoliosis reduces incidence and progression of cardiomyopathy and overall improves mortality. Treatment with angiotensin - converting enzyme inhibitors and / or beta - blockers is recommend. Early studies suggest that early treatment with ACE inhibitors may slow progression of disease and prevent onset of heart failure. Overt heart failure is treated with digoxins and diuretics as in other patients with cardiomyopathy. Surveillance consists of cardiology assessment with ECG and echocardiogram. This should be performed at the time of diagnosis or by the age of 6 years. Routine surveillance should be performed once every two years until the age of 10 and then yearly after that. If evidence of cardiomyopathy is present, surveillance every six months is indicate. Pulmonary function must be tested prior to exclusive use of a wheelchair. This should be repeated twice a year once patients reach 12 years of age, must use a wheelchair or vital capacity is found to be less than 80% of predict. Physiotherapy to prevent contractures is the mainstay of orthopedic interventions. Base upon patient requirements, passive stretching exercises, plastic ankle - foot orthosis during sleep, long leg braces to assist in ambulation may be used. Surgery to release contractures may be required for advanced disease. Surgery to correct scoliosis may improve pulmonary function. Patients are at risk for malnutrition, including obesity. Calcium and vitamin D should be supplemented to prevent osteoporosis secondary to chronic steroid use. Dexa scanning should be obtained at age three and then repeated yearly. The Guidelines recommend all patients participate in gentle exercise to avoid disuse atrophy. A combination of swimming pool and recreation - base exercises is recommend. Activity should be reduced if myoglobinuria is note or significant muscle pain develop. Gene therapies include medications that bind RNA and skip over defective codon. This produces shorter but potentially functional protein. Eteplirsen us exon 51 skipping antisense oligonucleotides medications used for this purpose. Eteplirsen has been approved by FDA for this purpose.


Differential Diagnosis

Diagnosis of myotonic dystrophy may be suspect based upon thorough clinical evaluation, detailed patient and family history, and identification of characteristic physical findings. A family history of muscle weakness and myotonia is a strong indicator of diagnosis for DM. Clinical Testing and Workup Molecular genetic Testing can confirm diagnosis of DM1 or DM2. Molecular genetic Testing looks for changes or alterations in the DMPK gene known to cause DM1, or in the CNBP gene for DM2. However, this testing is available only as a diagnostic service at specialized laboratories. Electromyography is a test that records electrical activity in skeletal muscles at rest and during muscle contraction. Emg can demonstrate characteristic changes that indicate the presence of myotonia or myopathy. This was a common test for DM before Molecular genetic Testing was develop. Emg changes are not specific to DM1 or DM2. Individuals with DM may have mildly or moderately elevated levels of muscle enzyme called creatine kinase or CK in their blood serum. Some individuals have low levels of immunoglobulin G. Immunoglobulins are specialized proteins produced by certain white blood cells. They play a role in defending the body against foreign substances or microorganisms by destroying them or coating them so they are more easily destroyed by white blood cells. A specialized imaging technique called magnetic resonance imaging or MRI, can be used to create images of the brain. Mri uses magnetic fields and radio waves to produce cross - sectional images of particular organs and bodily tissues. In DM, this can show characteristic changes in the brain, including degeneration of the cerebellum, area of the brain that controls movement and balance. Liver function tests may show elevated levels of liver enzymes in some people. The cause of this elevation is unknown. Liver function test abnormalities in DM1 and DM2 may be misinterpreted as signs of hepatitis or other liver disease.

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Kinds of Muscular Dystrophy

Muscular dystrophy is a group of inherited diseases that damage and weaken your muscles over time. This damage and weakness is due to lack of protein called dystrophin, which is necessary for normal muscle function. Absence of this protein can cause problems with walking, swallowing, and muscle coordination. Muscular dystrophy can occur at any age, but most diagnoses occur in childhood. Young boys are more likely to have this disease than girls. The Prognosis for muscular dystrophy depends on the type and severity of symptoms. However, most individuals with muscular dystrophy do lose the ability to walk and eventually require a wheelchair. There is no known cure for muscular dystrophy, but certain treatments may help.

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Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy is one of the most common inherited disorders worldwide. It is a disorder that affects boys almost exclusively. Parents may first see that their three - to - five year old child frequently fall, runs slowly, walks on his toes or has a waddling gait. Child calves are often unusually large. Weakness is initially most pronounced in hips and upper leg muscles, but will include most voluntary muscles over time, including those responsible for respiration. Heart similarly becomes weak over time. Weakness of the heart and respiratory muscles makes this a fatal disorder that requires careful medical management.

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Support groups

Fuchs Friends international online Support Group is a place of support and information for people with all types of Corneal Dystrophy. Fuchs Friends is also compatible with NVDA screen reader for low vision and blind people. It is an outreach project of the Corneal Dystrophy Foundation. We are here to provide Education and Support regarding Corneal Dystrophies. We are here to help people who, when diagnose, are sent on an emotional roller coaster ride caused by shock of diagnoses and fear of the unknown future of their vision. Join Fuchs Friends Fuchs Friends was founded in 2000 when two people who suffer from Fuchs Corneal Dystrophy meet. They decide to start a Support Group at new site that will eventually become Yahoo Groups. The group grows quickly and within a few years expands to over 1000 active members. It currently has approximately3000 active members and has an archive of over 150 000 individual messages in which members post questions and others answer based on their own experience and knowledge. The process continues and newer members eventually become experienced ones and pay it forward by providing their acquired knowledge and experience to those who follow. Since its inception in 2000, Fuchs Friends has helped over 10 000 people and continues to expand it'ss body of knowledge about this disease which, if left untreated, will eventually cause blindness. Fuchs Friends was the first patient advocacy operate online Support Group for Corneal Dystrophy sufferers and has the longest continuous history of operating and the largest population of members with these diseases. While Facebook and Twitter have received some interest in this type of support, they do not provide the ability to search for answers that online Group / list server format provide. At Fuchs Friends, your questions and answers you receive are permanent and easily accessible part of our archives. Rather than having to scroll through endless FB postings, you can simply search archives for word or phrase and quickly have all answers brought to your screen. Fuchs Friends is not intended to be a pity party but rather a place where you can access real support, information and facts that will help you in your journey to better vision. We have a strict set of terms and conditions that protect our members and that also encourage sharing among members pertinent information rather than simply person - to - person private messages that only benefit two parties involve.

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Treatment

Today, US Food and Drug Administration granted accelerated approval to Viltepso injection for Treatment of Duchenne Muscular Dystrophy in patients who have confirmed mutation of DMD gene that is amenable to exon 53 skipping. This is the second FDA - approved targeted treatment for patients with this type of mutation. Approximately 8% of patients with DMD have a mutation that is amenable to exon 53 skipping. Fda is committed to fostering Drug development for serious neurological disorders like Duchenne Muscular Dystrophy, said Billy Dunn, MD, director of the Office of Neuroscience in FDA Center for Drug Evaluation and Research. Today's approval of Viltepso provides an important treatment option for Duchenne Muscular Dystrophy patients with this confirmed mutation. Dmd is a rare genetic disorder characterized by progressive muscle deterioration and weakness. It is the most common type of Muscular Dystrophy. Dmd is caused by mutations in DMD gene that result in absence of dystrophin, protein that helps keep muscle cells intact. First symptoms are usually seen between three and five years of age and worsen over time. Dmd occurs in approximately one out of every 3 600 male infants worldwide; in rare cases, it can affect females. Viltepso was evaluated in two clinical studies with a total of 32 patients, all of whom were male and had genetically confirmed DMD. An increase in dystrophin production was established in one of those two studies, study that included 16 DMD patients, with 8 patients receiving Viltepso at the recommended dose. In study, dystrophin levels increase, on average, from 0. 6% of normal at baseline to 5. 9% of normal at week 25. Fda concludes that applicant data demonstrate an increase in dystrophin production that is reasonably likely to predict clinical benefit in patients with DMD who have confirmed mutation of dystrophin gene amenable to exon 53 skipping. Clinical benefits of drugs have not been establish. In making this decision, FDA considers potential risks associated with drug, life - threatening and debilitating nature of disease, and lack of available therapies. As part of the accelerated approval process, FDA is requiring companies to conduct clinical trial to confirm drugs ' clinical benefit. An ongoing study is designed to assess whether Viltepso improves time to stand for DMD patients with this confirmed mutation. If the trial fails to verify clinical benefit, FDA may initiate proceedings to withdraw approval of the drug. The most common side effects observed in DMD patients TREAT with 80 mg / kg once a week were: Upper respiratory tract infection, injection site reaction, cough and fever. Although kidney toxicity was not observed in Viltepso clinical studies, clinical experience with Viltepso is limit, and kidney toxicity, including potentially fatal glomerulonephritis, has been observed after administration of some antisense oligonucleotides. Kidney function should be monitored in patients taking Viltepso.


How is muscular dystrophy managed or treated?

Researchers are still looking for way to cure muscular dystrophy. Disease symptoms get worse over time, but these treatments can help: physical and occupational therapies strengthen and stretch muscles. These therapies can help you maintain function and range of motion. Speech therapy helps those who have problems swallowing. Corticosteroids, such as prednisone and deflazacort, may slow disease progression. Surgery relieves tension on contracted muscles and corrects spine curvature. Heart assist devices, such as pacemakers, treat heart rhythm problems and heart failure. Medical devices, such as walkers and wheelchairs, can improve mobility and prevent falls. Respiratory care, such as cough - assist devices and respirators, aid breathing.

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Facioscapulohumeral Muscular Dystrophy:

Facioscapulohumeral muscular dystrophy affects upper body muscles. It is not the same as Duchenne muscular dystrophy and Becker muscular dystrophy, which affect the lower body. Facioscapulohumeral muscular dystrophy is a genetic disease due to chromosome mutation. It appears in both men and women. It may develop in children if either parent carries gene for disorder. In 10% to 30% of cases, parents do not carry gene. Facioscapulohumeral muscular dystrophy is one of the most common forms of muscle dystrophy affecting 1 in 15 000 to 1 in 20 000 adults in the United States. It affects men and women equally. Facioscapulohumeral muscular dystrophy mainly affects face, shoulder, and upper arm muscles. However, it can also affect muscles around the pelvis, hips, and lower leg. Symptoms can appear after birth, but often they do not appear until age 10 to 26. However, it is not uncommon for symptoms to appear much later in life. In some cases, symptoms never develop. Symptoms are most often mild and very slowly become worse. Muscle weakness of face is common, and may include: shoulder. Muscle weakness causes deformities such as pronounced shoulder blades and sloping shoulders. People have difficulty raising their arms because of shoulder and arm muscle weakness. Weakness in the lower legs is possible as the disorder gets worse. This interferes with the ability to play sports because of decreased strength and poor balance. Weakness can be severe enough to interfere with walking. A small percentage of people use a wheelchair. Chronic pain is present in 50% to 80% of people with this type of muscular dystrophy. Hearing loss and abnormal heart rhythms may occur but are rare. Physical exam will show weakness of face and shoulder muscles as well as scapular winging. Weakness of back muscles can cause scoliosis, while weakness of abdominal muscles can BE cause of sagging belly. High blood pressure may BE note, but is usually mild. Eye exam may show changes in blood vessels in the back of the eye. Creatine kinase test DNA testing, Electrocardiogram EMG fluorescein angiography, Genetic testing of chromosome 4 Hearing tests, Muscle biopsy visual exam, Cardiac testing X - rays of spine to determine if there is scoliosis Pulmonary function tests bharucha - Goebel DX. Muscular dystrophies. In: Kliegman RM, Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21 ed. Philadelphia, PA: Elsevier; 2020: chap 627. Preston DC, Shapiro BE. Proximal, distal, and generalized weakness. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice. 7 ed. Philadelphia, PA: Elsevier; 2016: chap 27. Warner WC, Sawyer JR. Neuromuscular disorders. In: Azar FM, Beaty JH, Canale, eds. Campbell's Operative Orthopaedics. 13 ed. Philadelphia, PA: Elsevier; 2017: chap 35.


What causes FSHD?

Understanding Neuromuscular Disease Care. Iqvia Institute. Parsippany, NJ. Mostacciuolo, M. L. Et al. Facioscapulohumeral Muscular Dystrophy: Epidemiological and Molecular Study in north - east Italian population sample. Clin. Genet. Doi: 10. 1111 / J. 1399 - 0004. 2009. 01158. X Sposito, R. Et al. Facioscapulohumeral Muscular Dystrophy Type 1A in Northwestern Tuscany: Molecular Genetics - base Epidemiological and Genotype - Phenotype Study. Genet. Test. Doi: 10. 1089 / gte. 2005. 930 Flanigan, K. M. Et al. Genetic characterization of large, historically significant Utah kindred with facioscapulohumeral Dystrophy. Neuromuscul. Disord. Doi: 10. 1016 / S0960 - 896600201 - 2 Deenen, J. C. W. Et al. Epopulation - base incidence and prevalence of facioscapulohumeral Dystrophy. Neurology. Doi: 10. 1212 / WNL. 0000000000000797 Gabriels, J. Et al. The Nucleotide sequence of partially deleted D4Z4 locus in patients with FSHD identifies putative gene within each 3. 3 kb element. Gene.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

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Myotonic Muscular Dystrophy:

Myotonic muscular Dystrophy is the most common form of muscular Dystrophy diagnosed in adults. It affects men and women equally. This type of muscular Dystrophy causes difficulty with muscle relaxation; weakness in distal extremities, such as hands and wrists; cataracts; and gastrointestinal problems, such as constipation and diarrhea. It can also lead to endocrine disturbances, such as thyroid problems and diabetes. As Myotonic muscular Dystrophy progress, it can cause abnormal heart rhythm or weakened heartbeat. Cardiac involvement can become so severe that some people may require implantation of a pacemaker or cardiac defibrillator to regulate heartbeat.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Sources

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

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