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GTR Home > Conditions/Phenotypes > Roussy-Lévy syndrome

Roussy-Lévy syndrome

Synonyms
Hereditary areflexic dystasia; Roussy Levy hereditary areflexic dystasia; Roussy-Levy Syndrome; Roussy-Levy disease

Summary

Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999). [from OMIM]

Available tests

45 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (45 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0, MPZ
    Summary: myelin protein zero

  • Also known as: CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110, PMP22
    Summary: peripheral myelin protein 22

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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