Myotonic dystrophy

What is Myotonic dystrophy?

The most common adult muscular dystrophy, characterized by progressive muscle weakness and wasting of some of the cranial innervated muscles, as well as the distal limb muscles; other clinical features include myotonia, cataracts, hypogonadism, cardiac abnormalities, and frontal balding; onset usually in the the third decade; autosomal dominant inheritance caused by abnormal trinucleotide repeat expansion in the dystrophia myotonica protein kinase gene (DMPK) on chromosome 19q. This disorder demonstrates anticipation (increase in severity in successive generations because of successive amplification of the trinucleotide repeats); the severe congenital form is almost always confined to the children of affected women.

Questions and answers on "Myotonic dystrophy"

Hello, I have an undiagnosed neurological condition. I have seen doctors at the Cleveland Clinic my whole life, but have never been able to get a...

doctor1 MD

Hi

Thanks for your query.

See the symptoms you are suffering from may have many differential diagnosis like myotonic dystrophy (DM), myopathies and...

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My husband is 69 and had a muscle biopsy that the results showed a mild form of muscular dystrophy, such as myotonic dystrophy. There is no one on...

doctor1 MD

Hi,
Myotonic dystrophy (DM) is a clinically and genetically heterogeneous disorder. There are two major forms:

DM1 known as Steinert's disease
DM2...

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i have a sister who is going to see a genetic specialist for Muscular dystrophy testing. What questions should she be asking the doctor?

doctor1 MD

Brief Answer:
Muscular Dystrophy

Detailed Answer:
Good afternoon. My name is Dr. Saghafi and I am a neurologist in the XXXXXXX OH region of the...

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