Rare Disease Library

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Becker muscular dystrophy

BMD · Becker dystrophinopathy

Best vitelliform macular dystrophy

BMD · BVMD

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

BVES-related limb-girdle muscular dystrophy

LGMD2X · Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome

Congenital muscular dystrophy

CMD · MDC

Dermochondrocorneal dystrophy

François syndrome

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

Distal myopathy

Distal muscular dystrophy

Duchenne muscular dystrophy

DMD · Duchenne

Emery-Dreifuss muscular dystrophy

EDMD

Epidermolysis bullosa simplex with muscular dystrophy

EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Laminin subunit alpha 2-related muscular dystrophy

LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin

Limb-girdle muscular dystrophy

LGMD

OBSOLETE: Syndromic macular dystrophy

Occult macular dystrophy

OCMD · OMD

Oculogastrointestinal muscular dystrophy

Visceral myopathy-familial external ophthalmoplegia syndrome

Oculopharyngeal muscular dystrophy

OPMD

Progressive muscular dystrophy

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy