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MYOPATHY + CENTRAL NERVOUS SYSTEM (Encephalomyopathy)

• Epidemiology: Turkish family, consanguineous
• Clinical
  • Myopathy
    • Congenital
    • Hypotonia
    • Muscle fiber necrosis
  • CNS: Corpus callosum atrophy; White matter atrophy
  • Cardiomyopathy
  • Cataracts

• Epidemiology: Sporadic
• Clinical
  • Motor
    • Weakness: Proximal & Distal; Legs > Arms 50%
    • Congential hypotonia 50%
  • Tendon reflexes: Reduced
  • CNS: Mental deficiency
  • Skeletal
    • Short stature
    • Body asymmetry
    • Fingers: Contractures; Syndactyly
  • Face: Cleft lip-palate; Retrognathia; Blepharoptosis
  • Genital: Hypogonadism; Micropenis
  • Obesity: Post-natal
• Laboratory
  • EMG: Denervation & Reinnervation
  • Muscle biopsy: Grouped atrophy; Fiber type grouping