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Doctor insights on: Muscular Dystrophy Types Symptoms

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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

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 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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What causes duchenne muscular dystrophy?

What causes duchenne muscular dystrophy?

Genetic disorder: Duchenne's muscular dystrophy is an x linked genetic disorder causing abnormalities of the muscle fiber and eventual degeneration. ...Read more

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What causes duchenne muscular dystrophy?

Hereditary: It is inherited because of a defective gene on the x chromosome (female sex chromosome). It is referred to as a "sex-linked recessive" inheritance pattern. Girls get two x chromosomes, and the healthy one overrules the unhealthy gene, preventing girls from contracting the disorder. Boys get an x and a y. If the x has the defective gene, there is no corresponding gene on the y to overrule it. ...Read more

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Are muscular dystrophy diseases inherited?

Yes, virtually all: Heredity varies from autosomal dominant to recessive and a few sex linked, but these are indeed genetically mediated muscle disorders. ...Read more

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Muscular dystrophy and myopathy, are these related?

Muscular dystrophy and myopathy, are these related?

Yes: Muscular dystrophies are a subgroup of myopathies characterized by muscle degeneration and weakness. ...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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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 causes muscular dystrophy?

What causes muscular dystrophy?

Genetic disorder: There are different forms. Most common is duchenne that occurs in males but woman are carriers. Other forms are highly genetic such as fsh and myotonic dystrophy and the spectrum of sma. Genetic markers are available. ...Read more

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What are medications for duchenne muscular dystrophy?

Steroids: Currently the mainstay of therapy for duchenne is still steroids. Steroids slow the progression of the disease but are not a cure. There are many promising therapies being tested, but so far no others available at this time. For more information visit mda.Org or duchenneconnect. ...Read more

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What are some treatments for duchenne muscular dystrophy?

Medical Home: Children with severe muscle disease need a team approach that includes orthopedics, pulmonary, neurology, physiotherapy, gi, gu, and perhaps cardiology. These experts need to be coordinated through a team leader - usually a pediatrician who provides the medical home. ...Read more

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How can one differentiate between duchenne muscular dystrophy and spinal muscular atrophy?

Diagnostics: Muscle biopsy or EMG will be able to differentiate. Presenting symptoms may lead one to be suspected more than the other as well. ...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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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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Are muscular dystrophies always inherited? 

Are muscular dystrophies always inherited? 

Most are: Most are inherited, although there can be acquired mutations in a small number in utero (before birth). ...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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Differentiate between duchenne and spinal muscular atrophy?

Differentiate between duchenne and spinal muscular atrophy?

Muscle vs motor neur: Duchenne muscular dystrophy is a disease of the muscles wherein the muscles degenerate and are replaced by fibrous and fatty tissue. Spinal muscular atrophy may look similar, but it is not a dystrophy. It is a disease of motor neurons. It is an inherited recessive disease. ...Read more

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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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