Myotonic dystrophy

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Myotonic Dystrophy

Myotonic dystrophy (/maɪəˈtɒnɪk dɪsˈtrəfi/), also known as DM, is a type of genetic disorder that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in the 20s or 30s.

Etymology

The term "myotonic" is derived from the Greek words "myo-", meaning muscle, and "tonic", meaning tension or tone. "Dystrophy" comes from the Greek "dys-", meaning difficult or faulty, and "-trophy", meaning nourishment. Thus, "myotonic dystrophy" can be roughly translated as "a muscle disorder characterized by faulty nourishment and tension".

Types

There are two major types of myotonic dystrophy: DM1 and DM2. Both are caused by genetic mutations and have similar symptoms, but they are caused by mutations in different genes.

DM1

DM1, also known as Steinert's disease, is caused by a mutation in the DMPK gene. This mutation leads to the production of an abnormally long version of the DMPK protein, which disrupts the normal function of muscle cells and other cells in the body.

DM2

DM2, also known as proximal myotonic myopathy (PROMM), is caused by a mutation in the CNBP gene. This mutation also results in the production of an abnormally long protein, which similarly disrupts the function of various cells in the body.

Symptoms

Symptoms of myotonic dystrophy can vary widely, but they often include myotonia (difficulty relaxing muscles), muscle weakness and wasting, cataracts, heart problems, and endocrine disturbances.

Treatment

There is currently no cure for myotonic dystrophy, but treatments can help manage symptoms. These may include physical therapy, assistive devices, medications to manage myotonia and other symptoms, and regular monitoring for potential complications.

See also

External links

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