Pediatric Myotonic Dystrophy

Pediatric Myotonic Dystrophy

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Summary

Myotonic dystrophy is a type muscular dystrophy that causes progressive muscle weakness and atrophy (breakdown).

Expanded overview

Myotonic dystrophy occurs due to a gene mutation during development. Though it is the most common type of adult-onset muscular dystrophy, the condition can occur at any age.

Types

There are two types of myotonic dystrophy:

  • Type 1 myotonic dystrophy – Typically the more severe form, this condition affects the muscles of the lower legs, hands, neck and face. A variation of this condition – congenital myotonic dystrophy – is present at birth.
  • Type 2 myotonic dystrophy – Typically the more mild form, this condition usually affects the muscles of the neck, shoulders, elbows and hips.

Symptoms

The signs and symptoms of myotonic dystrophy vary according to the specific type, and severity of this condition varies widely, even among family members.

Possible symptoms include:

  • Cardiac conduction defects (abnormalities of the electrical signals that control the heartbeat)
  • Clouding of the lens of the eye (cataracts)
  • Hormonal problems that can cause early balding and infertility (in males)
  • Muscle weakness
  • Prolonged muscle contractions (myotonia)
  • Slurred speech
  • Temporary locking of the jaw
  • Unable to relax certain muscles after use

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