Young adult-onset distal hereditary motor neuropathy

Orpha code: 314485OMIM code: 614881

Definition

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

Disease data
Classification

Disease

Synonyms
Autosomal recessive distal spinal muscular atrophy type 5
Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 5
dHMN o początku u młodych dorosłych
dSMA5
Young adult-onset dHMN
dSMA5
ORPHA code
314485
OMIM code
614881
ICD10 code
G12.2
ICD11 code
-

No additional description.

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