PatientCrossroads CMD


           

CMDIR Subtypes

Congenital Muscular Dystrophy subtypes included in the CMDIR

  • Alpha 7 Integrin Related Myopathy
  • Alpha 9 Integrin Related Myopathy
  • Collagen VI Related Myopathy (Ullrich through Bethlem CMD)
  • Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O)
  • Choline Kinase B Receptor
  • LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy/MDC1A/Merosin deficient)
  • LMNA Related Muscular Dystrophy (Laminopathy/LaminA/C, L-CMD, Emery Dreifuss muscular dystrophy)
  • RYR1 Related Myopathy (with dystrophic presentation, including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
  • SEPN1 Related Myopathy (Rigid Spine Muscular Dystrophy/RSMD1, Congenital Fiber Type Disproportion, Mallory Weiss Body Desmin, Multi-minicore Myopathy)
  • SYNE1 (Nesprin Related Muscular Dystrophy)
  • Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap)
  • CMD Not Otherwise Specified (including Merosin Positive)

Congenital Myopathy subtypes included in CMDIR

  • Actin Aggregation Myopathy
  • Cap Disease
  • Central Core Disease (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
  • Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
  • Congenital Fiber Type Disporportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
  • Core Rod Myopathy
  • Hyaline Body Myopathy
  • Multiminicore Myopathy
  • Myotubular Myopathy
  • Nemaline Myopathy
  • Reducing Body Myopathy
  • RYR1 Related Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
  • Spheroid Body Myopathy
  • Tubular Aggregate Myopathy
  • Zebra Body Disease Myopathy
  • Congenital Myopathy Not Otherwise Specified

Congenital Myasthenic Syndrome (all subtypes included in CMDIR)

Myofibrillar Myopathy (all subtypes included in CMDIR)



Congenital Muscle Disease Subtypes Not Followed in the CMDIR
The following subtypes are not followed in our registry, however, if available, we have provided a weblink to the registry that serves each disorder.