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)
- 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 Undiagnosed (including Merosin Positive)
Congenital Myopathy subtypes included in CMDIR
- Actin aggregation myopathy
- Cap disease
- Central core disease
- Centronuclear myopathy
- Congenital fiber type disporportion
- Core rod myopathy
- Hyaline body myopathy
- Multiminicore myopathy
- Myotubular myopathy
- Nemaline myopathy
- Reducing body myopathy
- Spheroid body myopathy
- Tubular aggregate myopathy
- Zebra body disease myopathy
- Congenital Myopathy with unknown subtype
Congenital Myasthenic Syndrome (all subtypes included in CMDIR)
