Distal hereditary motor neuropathy type 2

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Distal hereditary motor neuropathy type 2

ORPHA:139525Disease

Also called Distal spinal muscular atrophy type 2 · dHMN2 · dSMA2

What it is

A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adolescent, Adult
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

FBXO38Disease-causing germline mutation(s)
HSPB1Disease-causing germline mutation(s)
HSPB3Disease-causing germline mutation(s)
HSPB8Disease-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 0015352OMIM 158590OMIM 608634OMIM 613376OMIM 615575

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.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.