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Doctor insights on: Different Forms Of Muscular Dystrophy

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How do gene defects cause different forms of muscular dystrophy? 

How do gene defects cause different forms of muscular dystrophy? 

Coding: Like the order of letters in a word can spell and mean something different, so too can the order and type of genes cause a particular disease presentation. When someone has genes for muscular dystrophy, it depends on how strong those genes are and what they code for that determines what form of dystrophy they will have. ...Read more

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Dr. Kathryn Mosher
141 doctors shared insights

Muscular Dystrophy (Definition)

Muscular dystrophy includes a number of disorders which are associated primarily with abnormalities of the architecture of the cells, often causing changes in size and function (weakness). These disorders are typically inherited, and recognized early in life, although there are of course exceptions to this. Prognosis is based on the type of MD and expression ...Read more


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What are the differences between duchennes muscular dystrophy and myotonic muscular dystrophy?

What are the differences between duchennes muscular dystrophy and myotonic muscular dystrophy?

Both are inherited: neuromuscular disorders. DMD is caused by mutatation(s) on Chr. X. Onset of rapidly progressive muscle atrophy starts early in boys. Female carriers can have heart muscle disease. MD 1 is caused by mutant genes on Chr. 19; MD 2 by mutant genes on Chr. 3, Each child of a parent affected by either has a 50% chance of inheriting it, often with earlier & more severe symptoms than the parent's. ...Read more

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How are duchennes muscular dystrophy and myotonic muscular dystrophy different?

How are duchennes muscular dystrophy and myotonic muscular dystrophy different?

Amount of Dystrophin: The two conditions differ in their severity, age of onset, and rate of progression. Mutations in the dmd gene cause duchenne and becker forms of muscular dystrophy (dmd and bmd, respectively). Mutations that lead to an abnormal version of dystrophin that retains some function usually cause bmd, while mutations that prevent the production of any functional dystrophin causes dmd. ...Read more

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What type of genetic disorder is the duchenne muscular dystrophy?

What type of genetic disorder is the duchenne muscular dystrophy?

"X-Linked recessive": This means that the problem causing this disease is carried on the x chromosome. Women have 2 of these, men just one. If a boy has an x chromosome that has this genetic defect, there is no other dna to "cover" this up and that boy will have the disease. Women have 2 copies of dna, and only can be carriers. Mothers can then pass this problem on to their sons, however. ...Read more

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What are the symptoms of duchenne muscular dystrophy?

Weakness...: ...More prominent in large muscles than in small ones, progressing to inability to stand up without assistance (see http://en.Wikipedia.Org/wiki/gower_maneuver ); muscles are enlarged early on ("pseudohypertrophy) but wither later. ...Read more

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What are the treatments of muscular dystrophy?

There are 9 major : types of inherited Muscular Dystrophies & > 100 similar inherited neuromuscular disorders. Treatment depends on specific diagnosis confirmed by molecular genetic testing &, sometimes, muscle biopsy, as most involve organ systems other than skeletal muscle. They differ in ages of onset & rapidity of progression of muscular weakness & atrophy. Please ask again when the diagnosis is established. ...Read more

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What are different types of muscle disorders?

What are different types of muscle disorders?

Many: U have 2 google this or read a book @ the library. There r 2 many 2 list here. They include congenital-infective- injury-degenerative 2 give u a few areas to research. Sorry, if ur ? Was a little more specific it would help. ...Read more

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What is the genetic inheritance of duchenne muscular dystrophy?

X linked: The gene for the abnormal protein is located on the x chromosome. Hence it is "x linked" . Mostly boys are affected. ...Read more

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Are peroxisomal disorders and muscular dystrophy the same thing?

Two different issues: Muscular dystrophy is a term used to describe the progressive disorder of muscles that can be genetic and worsen with age. Peroxisomal disorders are metabolic errors that can produce complex neuromuscular and medical crises which also worsen with age. There are treatments available so some of these disorders, but no cure. The clinical pictures are different, but similar enough to be confusing. ...Read more

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What are the different types of neuromuscular disorders?

There are many: There is lots of information on the Web about this subject. You might start here: http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html. For more depth, there are comprehensive books on the subject, e.g. "Neuromuscular Disorders" by Amato and Russell. At 775 pp it's a good introductory text. ...Read more

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Are there any very mild cases of duchenne muscular dystrophy (dmd)?

DMD vs BMD: Not really. This is a progressive disease with average life expectancy of less than 20 years. Rapidly progressed once in wheel chair due to scoliosis and resultant respiratory issues. A disease called becker's muscular dystrophy is similar with much less symptoms and much longer life expectancy. ...Read more

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What are the common symptoms of duschenne muscular dystrophy?

Weakness: Duchenne's muscular dystrophy (dmd) is caused by a faulty protein. It results in weakness that starts in the hip girdle and progresses to other areas of the body. It can result in scoliosis and tight muscles. Later in the course it can result in loss of function and frequent respiratory infections. The disease is currently incurable, but steroids can often delay the progression of symptoms. ...Read more

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What are the different types of autosomal heart syndromes?

What are the different types of autosomal heart syndromes?

Autosomal syndromes: Autosomal syndromes of the heart include vasovagal syncope, vasodepressor syncope and postural orthostatic tachycardia (POTS). ...Read more

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What is the biological cause of muscular dystrophy?

What is the biological cause of muscular dystrophy?

Muscular dystrophies: are a group of inherited neuromuscular disorders. Of the 9 major types & > 100 related disorders, each is caused by a specific mutant gene or genes. Some are inherited in an X-linked recessive pattern from a carrier mother; others are autosomal dominant, meaning each child of an affected parent has a 50% chance of inheriting it. Please specify the type to know the specific genetic defect. ...Read more

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What sort of disorder is duchenne muscular dystrophy?

What sort of disorder is duchenne muscular dystrophy?

Muscle weakness: Dmd is a condition when muscles start to die prematurely. It starts in early childhood, leads to weakness of voluntary muscles such as those of hips, pelvic area, thighs and shoulders. Calves are often enlarged. Eventually it involves all muscles including that of heart and that control breathing. Life span is shortened to less than 30 years. It is a genetic condition primarily in boys. ...Read more

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Are there different types of genes associated with tay-sach's?

Are there different types of genes associated with tay-sach's?

Rarely yes: Almost all patients with tay-sach lack hexosaminidse a activity due to mutations in the hex a gene. The infantile form have less than 5% activity while the juvenile and adult forms have partial deficiencies. A very small subset of patients have normal hex a activity but have a mutation in the gm2 activator gene that codes for the intralysosomal protein, gm2 activator that degrades gangliosides. ...Read more

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What mutation type causes duchenne muscular dystrophy?

What mutation type causes duchenne muscular dystrophy?

Duchenne MD: Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach ...Read more

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What mutation type causes duchenne muscular dystrophy?

What mutation type causes duchenne muscular dystrophy?

DMD is caused by: mutation of Xp21.2-p21.1, a large gene that encodes dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier girls can have muscle weakness, including heart. See mda.org & a geneticist. ...Read more

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