Rare Disease Library

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Adult Refsum disease

Classic Refsum disease · HMSN 4

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons · CMT2 with giant axons

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Axonal hereditary motor and sensory neuropathy

Axonal HMSN

Charcot-Marie-Tooth disease type 1

Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1

Charcot-Marie-Tooth disease type 4D

CMT4D · HMSN, Lom type

Charcot-Marie-Tooth disease type 4G

CMT4G · HMSNR

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

CMT/HMSN · Charcot-Marie-Tooth hereditary neuropathy

COQ7-related distal hereditary motor neuropathy

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

Demyelinating hereditary motor and sensory neuropathy

Demyelinating HMSN

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 muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy

Sorbitol dehydrogenase deficiency

Distal spinal muscular atrophy type 3

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

Hereditary motor and sensory neuropathy type 5

Charcot-Marie-Tooth disease-pyramidal features syndrome · HMSN 5

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

Hereditary motor and sensory neuropathy with acrodystrophy

AR-CMT2 with acrodystrophy · Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy

Hereditary motor and sensory neuropathy, Okinawa type

HMSNP · Hereditary motor and sensory neuropathy, proximal type

Hereditary optic neuropathy

Hereditary sensorimotor neuropathy with hyperelastic skin

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

Leber hereditary optic neuropathy

LHON · Leber optic atrophy

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

Periodic paralysis with later-onset distal motor neuropathy

PrP systemic amyloidosis

Prion protein systemic amyloidosis · Chronic diarrhea with hereditary sensory and autonomic neuropathy

Rare hereditary disease with peripheral neuropathy

Rare hereditary metabolic disease with peripheral neuropathy

Rare hereditary neurologic disease with peripheral neuropathy

Rare hereditary systemic 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

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