Roussy–Lévy syndrome

Also known as: Roussy–Lévy syndrome

Demyelinating CMT with tremor and areflexia.

Medical specialty: Neurology
Subspecialty: Neurology / Neuromuscular (inherited neuropathies)
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, onset in childhood
Gene(s) involved: MPZ, PMP22

Etiology & mechanism

Mutations in myelin proteins.

Gene(s) involved (2)

MPZPMP22

Symptoms & signs (4)

areflexiaataxiadistal weaknesspostural tremor

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.