Rare Disease Library

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

Autosomal dominant distal myopathy

BAG3-related myofibrillar myopathy

MFM6 · Myofibrillar myopathy type 6

Congenital fiber-type disproportion myopathy

CFTDM

Congenital myopathy, Paradas type

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, Tateyama type

Distal myopathy, Welander type

WDM

Distal myotilinopathy

DNAJB4-related distal myopathy

DNAJB6-related distal myopathy

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

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