Rare Disease Library

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

Laing distal myopathy

Distal myopathy type 1 · MPD1

Leber hereditary optic neuropathy

LHON · Leber optic atrophy

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2

Multifocal motor neuropathy

MMN · MMNCB

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

PMP2-related Charcot-Marie-Tooth disease type 1

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

Rare hereditary disease with peripheral neuropathy

Rare hereditary metabolic disease with peripheral neuropathy

Rare hereditary neurologic disease with peripheral neuropathy

Spinal muscular atrophy with respiratory distress type 1

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

Syndromic hereditary optic neuropathy

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

X-linked Charcot-Marie-Tooth disease

CMTX · X-linked hereditary motor and sensory neuropathy

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

Young adult-onset distal hereditary motor neuropathy

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