Roussy-Lévy syndrome

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Roussy-Lévy syndrome

ORPHA:3115Disease

Also called Hereditary areflexic dystasia, Roussy-Lévy type

What it is

A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.

Key facts

Age of onset
Childhood, Infancy
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

MPZDisease-causing germline mutation(s)
PMP22Disease-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 4741MEDDRA 10063449MONDO 0008392OMIM 180800UMLS C0205713

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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