Myopathy, Distal, 5; Mpd5

Description

Distal myopathy-5 is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. Other features include facial weakness and hyporeflexia. Patients remain ambulatory even after long disease duration (summary by Park et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Myopathy, Distal, 5; Mpd5

  • Muscle weakness
  • Myopathy
  • Flexion contracture
  • Elevated serum creatine phosphokinase
  • Facial palsy
  • Distal amyotrophy
  • Sensory impairment
  • Mildly elevated creatine phosphokinase
  • Rimmed vacuoles
  • Muscle fiber splitting
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Incidence and onset information

Not enough data available about incidence and published cases.


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Alternate names

Myopathy, Distal, 5; Mpd5 Is also known as ;adssl1-related distal myopathy.



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