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Pediatric Myotonic Dystrophy

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

What is Pediatric Myotonic Dystrophy?

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.

What are the different types of Pediatric Myotonic Dystrophy?

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.

What are the signs and symptoms of Pediatric Myotonic Dystrophy?

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

Pediatric Myotonic Dystrophy Doctors and Providers