Roussy-Levy syndrome (RLS) is a dominantly inherited early-onset syndrome consisting of gait ataxia, pes cavus, areflexia, eventually associated with muscle atrophy, postural tremors, limb ataxia, kyphoscoliosis, and sensory loss. The RLS subtype is not genetically homogeneous. RLS has been described as a phenotypic variant of Charcot-Marie-Tooth disease [DS:H00264] type 1A (CMT-1A) associated with duplications of the PMP22 gene. A mutations in the MPZ gene has been revealed indicating that the original RLS may fall under the CMT-1B subgroup of hereditary demyelinating neuropathies.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Disorders of nerve root, plexus or peripheral nerves
Hereditary neuropathy
8C20 Hereditary motor and sensory neuropathy
H01155 Roussy-Levy syndrome
