Mynotonic Dystpophy

Jamie Sandquist

What is it?




  1. a form of muscular dystrophy accompanied by myotonia.




Causes?

The exact cause of Myotonic Dystrophy is unknown however the genetic change responsible has been identified.

The genetic change (mutation) that causes Myotonic Dystrophy is in the DMPK gene found on chromosome 19.

Symptoms?

  1. The muscle wasting and weakness develop in their lower legs, hands, neck and face. They also have stiffness and tightness of their muscles (calledmyotonia), so they are slow to relax certain muscles after using them. Not being able to release their grip on in a handshake or a doorknob is one example of this problem.

Inheritance?

Both types of myotonic dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Diagnosis?

The genetic test requires a blood sample from the patient. The DNA is extracted from the blood sample and analyzed to see if that person has the DM mutation. Prenatal testing, where the DNA of the fetus is checked for the presence of the myotonic dystrophy mutation.

Treatment?

There is currently no cure or specific treatment for myotonic dystrophy. Ankle supports and leg braces can help when muscle weakness gets worse. There are also medications that can lessen the myotonia. Other symptoms of myotonic dystrophy such as the heart problems, and eye problems (cataracts) can also be treated.

Discovery?

Myotonic muscular dystrophy often is abbreviated as “DM” in reference to its Greek name,dystrophia myotonica. Other names for this disorder include simply myotonic dystrophy and, occasionally, Steinert disease, after the German doctor who originally described the disorder in 1909.
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