Distal spinal muscular atrophy type 3

Orpha code: 139547OMIM code: 607088

Definition

Distal spinal muscular atrophy type 3 is 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.

Disease data
Classification

Disease

Synonyms
Autosomal recessive distal spinal muscular atrophy type 3
Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 3
dHMN3 and dHMN4
dSMA3
Dystalna dziedziczna neuropatia ruchowa typu 3 i typu 4
Distal hereditary motor neuropathy type 3 and type 4
dHMN3 and dHMN4
dSMA3
ORPHA code
139547
OMIM code
607088
ICD10 code
G12.2
ICD11 code
-

No additional description.

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