Rare Disease Library

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy

Benign Samaritan congenital myopathy

Collagen VI-related congenital muscular dystrophy

COL6-RD

Congenital lethal myopathy, Compton-North type

Congenital muscular dystrophy due to LMNA mutation

L-CMD · LMNA-related congenital muscular dystrophy

Congenital muscular dystrophy, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

Congenital myopathy

Congenital myopathy with cores

Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with fast-twitch fiber atrophy

Congenital myopathy, Paradas type

Congenital myotonia

Congenital nemaline myopathy

DNAJB4-related distal myopathy

DNAJB6-related distal myopathy

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Myopathy with exercise intolerance, Swedish type · ISCU-related myopathy

Isolated congenital syngnathia

Isolated congenital maxillomandibular fusion

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

KLHL9-related early-onset distal myopathy

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

Mitochondrial DNA-related mitochondrial myopathy

mtDNA-related mitochondrial myopathy · Maternally-inherited mitochondrial myopathy

OBSOLETE: Congenital myopathy with vacuoles

Severe congenital nemaline myopathy

SMPX-related distal myopathy

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM