About Myopathies

A myopathy is a disease of muscle in which the muscle fibers do not function properly, resulting in muscular weakness.

Congenital myopathies

• Cap myopathies
• Centronuclear myopathies
  • Centronuclear myopathy, BIN1-related
  • Centronuclear myopathy, DMN2-related
  • Centronuclear myopathy, RYR1-related
  • Centronuclear myopathy, TTN-related
• Congenital myopathies with fiber type disproportion
• Core myopathies
  • Central core disease
  • Multiminicore myopathies
• Myosin storage myopathies
• Myotubular myopathies
• Nemaline myopathies
  • NEM1-10

Distal myopathies

• Distal anoctaminopathy
• Distal myopathy with caveolin defect
• Distal myopathy with myotilin defect
• Distal myopathy with nebulin defect
• Distal myopathy with VCP defect
• Distal myopathy, alpha-B crystallin-related
• Distal myopathy, dynamin 2-related
• Distal myopathy, filamin C-related
• GNE myopathy/Nonaka myopathy/hereditary inclusion-body myopathy (HIBM)
• Laing distal myopathy
• Markesberg-Griggs late-onset distal myopathy
• Miyoshi myopathy
• Udd myopathy/tibial muscular dystrophy
• Vocal cord and pharyngeal distal myopathy
• Welander distal myopathy

Endocrine myopathies

• Hyperthyroid myopathy
• Hypothyroid myopathy

Inflammatory myopathies

• Dermatomyositis
• Inclusion-body myositis
• Polymyositis

Metabolic myopathies

• Acid maltase deficiency (AMD, Pompe disease)
• Carnitine deficiency
• Carnitine palmityl transferase deficiency
• Debrancher enzyme deficiency (Cori disease, Forbes disease)
• Lactate dehydrogenase deficiency
• Myoadenylate deaminase deficiency
• Phosphofructokinase deficiency (Tarui disease)
• Phosphoglycerate kinase deficiency
• Phosphoglycerate mutase deficiency
• Phosphorylase deficiency (McArdle disease)

Myofibrillar myopathies (MFM)

• MFM, alpha-B crystallin-related
• MFM, BAG3-related
• MFM, desmin-related
• MFM, filamin C-related
• MFM, LDB3/ZASP-related
• MFM, myotilin-related
• MFM, SEPN-related
• Spheroid body myopathy

Scapuloperoneal myopathy