Rare Disease Library

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX

Acute motor axonal neuropathy

AMAN · Acute pure motor GBS

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Autosomal dominant ACTN2-related distal myopathy

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal recessive ACTN2-related distal myopathy

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive distal nebulin myopathy

Nebulin-related early-onset distal myopathy

COQ7-related distal hereditary motor neuropathy

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

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 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

DNAJB4-related distal myopathy

DNAJB6-related distal myopathy

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13

KLHL9-related early-onset distal myopathy

Multifocal motor neuropathy

MMN · MMNCB

Periodic paralysis with later-onset distal motor neuropathy

PMP2-related Charcot-Marie-Tooth disease type 1

PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1

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

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

X-linked distal hereditary motor neuropathy

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

Young adult-onset distal hereditary motor neuropathy

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