Myotonic dystrophy

external

• Synonyms

  • Dystrophia myotonica
  • Dystrophy myotonia
  • MyoD

• Causes

  • DMPK gene mutation

• Effects

  • Myopathy
  • Myotonia
  • Neuromuscular hypoventilation
  • Bilateral ptosis
  • Frontal balding
  • Decreased gut motility
  • Hypogonadism
  • Mental retardation
  • Myopathic facies
  • Congenital cataract
  • Ptosis
  • Insulin resistance
  • Familial dilated cardiomyopathy

• Parents

  • Triplet repeat disease
  • Autosomal dominant disorder
  • Hereditary muscular dystrophy

• Treatments

  • Procainamide

• Description

  • "Chromosome 19
  • Myotonin gene Dystrophy myotonia protein kinase (DMPK) Onset 20-30 yrs Multisystemic."