Rare Disease Library

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

Becker muscular dystrophy

BMD · Becker dystrophinopathy

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

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Congenital muscular dystrophy, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

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 congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

Laminin subunit alpha 2-related muscular dystrophy

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

Limb-girdle muscular dystrophy

LGMD

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

Oculogastrointestinal muscular dystrophy

Visceral myopathy-familial external ophthalmoplegia syndrome

Oculopharyngeal muscular dystrophy

OPMD

Progressive muscular dystrophy

Scapuloperoneal spinal muscular atrophy

Kugelberg-Welander disease · Neurogenic scapuloperoneal amyotrophy, New England type

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD

X-linked scapuloperoneal muscular dystrophy

X-linked SPMD · X-linked scapuloperoneal syndrome