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Distal hereditary motor neuropathy type 7
rareDistal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
- Identifiers
- MONDO:0015355 Orphanet:139589
- Also known as
- dHMN7 · distal spinal muscular atrophy with vocal cord paralysis
Subtypes
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