Distal hereditary motor neuropathy type 7

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Distal hereditary motor neuropathy type 7

ORPHA:139589Disease

Also called Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

What it 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.

Key facts

Age of onset
Adolescent, Adult, Childhood
Inheritance
Autosomal dominant
Classified as
Disease

Genes

DCTN1Disease-causing germline mutation(s)
SLC5A7Disease-causing germline mutation(s)

ICD-10 codes

G12.2filed under a broader ICD-10 category — shared with 25 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

MONDO 0015355OMIM 158580OMIM 607641UMLS C4749653

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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