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Clinical features

  • Myotonia: delayed muscle relaxation following normal muscle contraction
    • Classically manifests as difficulty releasing a handshake
  • Skeletal muscle weakness (due to muscle atrophy)
  • Myalgia
  • Arrhythmia
  • Cataracts
  • Testicular atrophy or features of ovarian insufficiency (i.e., infertility)
  • Frontal balding
  • Cognitive and behavioral impairment

Duchenne muscular dystrophy (DMD)

  • Gower maneuver
    • The individual arrives at a standing position by supporting themselves on their thighs and then using the hands to “walk up” the body until they are upright. Pasted image 20240402223808.png
    • Classic sign of DMD, but also occurs in inflammatory myopathies (e.g., dermatomyositis, polymyositis) and other muscular dystrophies (e.g., BMD)
  • Calf pseudohypertrophy
    • Mutations affecting the dystrophin gene→ alterations of dystrophin protein structure → partial (BMD) or almost complete (DMD) impairment of protein function → disturbance of numerous cellular signaling pathways → necrosis of affected muscle cells → replacement with connective tissue and fatty tissue → affected muscles are weak even though they appear larger (“pseudohypertrophy”)