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Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 (MONDO:0011771)

A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0011771

Internal:12855

Synonyms

autosomal recessive distal spinal muscular atrophy type 3

dHMN3 and dHMN4

dSMA3

distal hereditary motor neuropathy type 3 and type 4

distal spinal muscular atrophy type 3

spinal muscular atrophy, chronic distal, autosomal recessive

HMN 3

HMN 4

dHMN3

dHMN4

neuronopathy, distal hereditary motor, type 3

neuronopathy, distal hereditary motor, type 4

neuropathy, distal hereditary motor, type 4

spinal muscular atrophy, distal, autosomal recessive, 3

Mapped terms

DOID:0111211

GARD:0016956

MEDGEN:337659

MESH:C564626

OMIM:607088

Orphanet:139547

UMLS:C1846823

Child terms

Unknown children.

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