Rare Disease Library

Distal myopathy

Distal muscular dystrophy

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

LGMD2P · Autosomal recessive limb-girdle muscular dystrophy type 2P

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-sarcoglycanopathy · LGMD2D

Anoctamin-5-related limb-girdle muscular dystrophy R12

Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD2L

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant Emery-Dreifuss muscular dystrophy

EDMD2

Autosomal dominant limb-girdle muscular dystrophy

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive limb-girdle muscular dystrophy

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

Becker muscular dystrophy

BMD · Becker dystrophinopathy

Best vitelliform macular dystrophy

BMD · BVMD

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

Bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

BVES-related limb-girdle muscular dystrophy

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

Calpain-3-related limb-girdle muscular dystrophy D4

LGMD1I · Limb-girdle muscular dystrophy type D4

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

Collagen VI-related congenital muscular dystrophy

COL6-RD

Congenital muscular dystrophy

CMD · MDC

Congenital muscular dystrophy due to dystroglycanopathy

CMD due to dystroglycanopathy

Congenital muscular dystrophy due to LMNA mutation

L-CMD · LMNA-related congenital muscular dystrophy

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Congenital muscular dystrophy with cerebellar involvement

CMD with cerebellar involvement · CMD-CRB

Congenital muscular dystrophy with hyperlaxity

CMDH

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with ITGA7 deficiency

Congenital muscular dystrophy with intellectual disability

CMD with intellectual disability · CMD-MR

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy-dystroglycanopathy without intellectual disability · CMD without intellectual disability

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Congenital muscular dystrophy, Davignon-Chauveau type

Congenital muscular dystrophy, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

Distal hereditary motor neuropathy type 2

Distal spinal muscular atrophy type 2 · dHMN2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

Distal hereditary motor neuropathy type 7

Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

DNAJB6-related limb-girdle muscular dystrophy D1

LGMD1D · Autosomal dominant limb-girdle muscular dystrophy type 1D

Duchenne and Becker muscular dystrophy

Severe dystrophinopathy, Duchenne and Becker type

Duchenne muscular dystrophy

DMD · Duchenne

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

Emery-Dreifuss muscular dystrophy

EDMD

Epidermolysis bullosa simplex with muscular dystrophy

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