Rare Disease Library

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive limb-girdle muscular dystrophy type 2I · LGMD2I

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

GMPPB-related limb-girdle muscular dystrophy R19

LGMD2T · Autosomal recessive limb-girdle muscular dystrophy type 2T

HNRNPDL-related limb-girdle muscular dystrophy D3

LGMD1G · Autosomal dominant limb-girdle muscular dystrophy type 1G

ISPD-related limb-girdle muscular dystrophy R20

LGMD2U · Autosomal recessive limb-girdle muscular dystrophy type 2U

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

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

Monomelic amyotrophy

Benign focal amyotrophy · Hirayama disease

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

OBSOLETE: Distal spinal muscular atrophy

OBSOLETE: GMPPB-related congenital muscular dystrophy

OBSOLETE: GMPPB-related CMD

Occult macular dystrophy

OCMD · OMD

Oculogastrointestinal muscular dystrophy

Visceral myopathy-familial external ophthalmoplegia syndrome

Oculopharyngeal muscular dystrophy

OPMD

Plectin-related limb-girdle muscular dystrophy R17

LGMD2Q · Plectin-related LGMD R17

POGLUT1-related limb-girdle muscular dystrophy R21

LGMD2Z · Autosomal recessive limb-girdle muscular dystrophy type 2Z

POMGNT1-related limb-girdle muscular dystrophy R15

LGMD2O · Autosomal recessive limb-girdle muscular dystrophy type 2O

POMGNT2-related limb-girdle muscular dystrophy R24

POMGNT2-related muscular dystrophy · POMGNT2-related LGMD R24

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

POMT2-related limb-girdle muscular dystrophy R14

LGMD2N · Autosomal recessive limb-girdle muscular dystrophy type 2N

Progressive muscular atrophy

PMA

Progressive muscular dystrophy

Proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

Retinal macular dystrophy type 2

MCDR2

Rigid spine syndrome

Rigid spine congenital muscular dystrophy

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Sorsby fundus dystrophy

SMD · Sorsby macular dystrophy

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

Titin-related limb-girdle muscular dystrophy R10

Autosomal recessive limb-girdle muscular dystrophy type 2J · LGMD2J

TNP03-related limb-girdle muscular dystrophy D2

LGMD1F · Autosomal dominant limb-girdle muscular dystrophy type 1F

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y

TRAPPC11-related limb-girdle muscular dystrophy R18

LGMD2S · Autosomal recessive limb-girdle muscular dystrophy type 2S

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD

X-linked distal hereditary motor neuropathy

X-linked dHMN · X-linked distal spinal muscular atrophy

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX

X-linked Emery-Dreifuss muscular dystrophy

X-linked scapuloperoneal muscular dystrophy

X-linked SPMD · X-linked scapuloperoneal syndrome

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN