Hereditary motor and sensory neuropathy…

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Hereditary motor and sensory neuropathy type 5

ORPHA:64751Disease

Also called Charcot-Marie-Tooth disease-pyramidal features syndrome · HMSN 5 · HMSN V · Hereditary motor and sensory neuropathy type V

What it is

Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
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.

Gene

MFN2Disease-causing germline mutation(s)

ICD-10 codes

G60.0filed under a broader ICD-10 category — shared with 94 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.

Cross-references

GARD 9208MONDO 0010877OMIM 600361UMLS C4721916

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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