GTR Home > Conditions/Phenotypes > Myofibrillar myopathy 1

Disease characteristics

Excerpted from the GeneReview: Myofibrillar Myopathy
Myofibrillar myopathy is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is present in about 80% of individuals and is more pronounced than proximal weakness in about 25%. A minority of individuals experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy is present in about 20% of affected individuals. Overt cardiomyopathy is present in 15%-30%.

Associated genes

Clinical features

  • Irregular heart beat
  • Neck muscle weakness
  • Distal muscle weakness
  • Restrictive heart failure
  • Hyporeflexia of lower limbs
  • Respiratory insufficiency due to muscle weakness
  • Bulbar palsy
  • Constipation
  • Diarrhea
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
  • EMG: myopathic abnormalities
  • Late-onset proximal muscle weakness
  • Facial palsy
  • Right ventricular cardiomyopathy
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