Rare Disease Library

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

Autosomal dominant distal myopathy

Autosomal recessive distal myopathy

BAG3-related myofibrillar myopathy

MFM6 · Myofibrillar myopathy type 6

Congenital fiber-type disproportion myopathy

CFTDM

Congenital myopathy with internal nuclei and atypical cores

CNM4 · Centronuclear myopathy type 4

Congenital myopathy, Paradas type

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

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 myopathy

Distal muscular dystrophy

Distal myopathy with anterior tibial onset

Distal anterior compartment myopathy

Distal myopathy, Tateyama type

Distal myopathy, Welander type

WDM

Distal myotilinopathy

Distal spinal muscular atrophy type 3

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

DNAJB4-related distal myopathy

DNAJB6-related distal myopathy

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

Laing distal myopathy

Distal myopathy type 1 · MPD1

Late-onset distal myopathy, Markesbery-Griggs type

ZASP-related myofibrillar myopathy

Oculopharyngodistal myopathy

OPDM · Oculopharyngeal distal myopathy

SMPX-related distal myopathy

Spinal muscular atrophy with respiratory distress type 1

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

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

Typical nemaline myopathy

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

X-linked distal myopathy

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX