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Doctor insights on: Muscular Dystriphy

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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 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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What is duchenne muscular dystrophy?

X-Linked Reces. MD: Duchenne dystrophy is inherited as an x-linked recessive trait, carried in women. It affects about 1in 3500 male births with no geographic/ethnic variation. About 1/3 of the cases are caused by new mutations, the others are familial. Diagnosis is usually evident from clinical features. The abnormality is in the cytoskeletal protein dystrophin. It is unclear why the lack of dystrophin ->findings. ...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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Muscilar dystrophy related to dystrophin protein?

Muscilar dystrophy related to dystrophin protein?

Two types: The most common is duchennes with beckers a distant second. Both are related to muscle protein abnormal structure. ...Read more

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What is progressive muscular dystrophy?

Muscle: It is a progressive disorder affecting the muscle causing weakness. ...Read more

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What is muscular dystrophy?

Muscle disease: Muscular dystrophy is a worsening disorder that causes muscle weakness. The worst kind is duchenne's dystrophy, that affects only boys, leads to severe weakness, and wheelchair needs, breathing difficulties in the teens. Milder forms can present later or not cause as much disability. These are genetic (runs in families) disorders. ...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 does "duchene muscular dystrophy" mean?

What does "duchene muscular dystrophy" mean?

Genetic muscle issue: Dmd is a genetic disorder in which there is a mutation in dystrophin, a structural protein found in muscle cell membrane. It causes progressive weakness that typically starts in the legs and pelvis, but eventually spreads throughout the body and also compromises breathing. There are symptomatic treatments, but no cure. ...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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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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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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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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What is pseudohypertrophic muscular dystrophy?

Big muscles: In some muscular dystophies some muscles are enlarged like in a weight lifter, though they are weak. ...Read more

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Please help! what is the difference between duchennes muscular dystrophy and myotonic muscular dystrophy?

Good question.: The long answer reqires that you go to the internet so you can look at the typical facial features of myotonic dystrophy. The two conditions are not similar in presentaion. You should go with the long answer. ...Read more

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Where does duchenne muscular dystrophy usually appear?

Before age 3 years: Boys with Duchennes MD experience weakness in their lower extremities, especially the hip and erector muscles of the thighs, with frequent falling. The appear to have hypertrophy of the calf muscles. ...Read more

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Difference between myalgia and muscular dystrophy?

Muscular Dystrophy: Duchenne muscular dystrophy (dmd) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy. Dmd is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom onset is in early childhood, usually between ages 3 and 5. Myalgia is a term to indicate muscle pain. ...Read more

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Is duchenne muscular dystrophy more prominent in certain ethnicities?

Duchenne: It is an x linked (from the mother) defective gene. Therefore it effects only boys. Not aware of an ethnic predilection. ...Read more