GTR Home > Conditions/Phenotypes > Myotilinopathy

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

  • Areflexia
  • Achilles tendon contracture
  • Hyporeflexia of lower limbs
  • Progressive distal muscle weakness
  • Myalgia
  • Myofibrillar myopathy
  • Polyneuropathy
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase
  • Muscle stiffness
  • Distal amyotrophy
  • Proximal muscle weakness
  • Muscle fiber cytoplasmatic inclusion bodies
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