Young adult-onset distal hereditary motor…

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Young adult-onset distal hereditary motor neuropathy

ORPHA:314485Disease

Also called Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN · dSMA5

What it is

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.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adult
Inheritance
Autosomal recessive
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

DNAJB2Disease-causing germline mutation(s) (loss of function)
VWA1Disease-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 13947OMIM 614881OMIM 619216UMLS C4749918

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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