Distal hereditary motor neuropathy type 5

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Distal hereditary motor neuropathy type 5

ORPHA:139536Disease

Also called Distal HMN V · Distal hereditary motor neuropathy type V · Distal spinal muscular atrophy type 5 · dHMN5

What it is

A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.

Key facts

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

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

BSCL2Disease-causing germline mutation(s)
GARS1Disease-causing germline mutation(s)
REEP1Disease-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

MESH C563443MONDO 0100350OMIM 600794OMIM 614751OMIM 619112UMLS C1833308

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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