En ärftlig, autosomalt dominant (kromosom 17) motorisk och sensorisk nervsjukdom, kännetecknad av fortskridande förlust av muskelreflexer och muskelförtvining i benen. Debuten sker vanligen i perioden mellan tonåren och fyrtioårsåldern. Sjukdomen indelas i två undertyper, hereditär motorisk och sensorisk neuropati (HMSN) typ I och II. HMSN I är förenad med onormala nervsignalshastigheter och nervh ypertrofi, vilka inte iakttas i HMSN II. Syn. Charcot-Marie-Tooths muskelatrofi.
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
Roussy-Levy syndrom — Peroneal muskulär atrofi
Charcot Marie Tooth Disease — Muscular Atrophy, Peroneal — Atrophies, Peroneal Muscular — Atrophy, Peroneal Muscular — Muscular Atrophies, Peroneal — Peroneal Muscular Atrophies — Peroneal Muscular Atrophy — Charcot-Marie-Tooth Syndrome — Charcot Marie Tooth Syndrome — Syndrome, Charcot-Marie-Tooth — Atrophy, Muscular, Peroneal — Charcot-Marie Disease — Charcot Marie Disease — Charcot-Marie-Tooth Hereditary Neuropathy — Charcot Marie Tooth Hereditary Neuropathy — Hereditary Neuropathy, Charcot-Marie-Tooth — Roussy-Levy Syndrome — Roussy Levy Syndrome — Syndrome, Roussy-Levy — Hereditary Areflexic Dystasia — Areflexic Dystasia, Hereditary — Areflexic Dystasias, Hereditary — Dystasia, Hereditary Areflexic — Dystasias, Hereditary Areflexic — Hereditary Areflexic Dystasias — Roussy Levy Hereditary Areflexic Dystasia — Roussy-Levy Disease — Roussy Levy Disease — Roussy-Levy Hereditary Areflexic Dystasia — HMSN Type II — Charcot-Marie-Tooth Disease, Type II — Charcot Marie Tooth Disease, Type II — Hereditary Motor and Sensory-Neuropathy Type II — Hereditary Motor and Sensory Neuropathy Type II — HMSN II — Neuropathy, Type II Hereditary Motor and Sensory — Hereditary Type I Motor and Sensory Neuropathy — Charcot-Marie-Tooth Disease, Type I — Charcot Marie Tooth Disease, Type I — Hereditary Motor, and Sensory Neuropathy Type I — HMN Distal Type I — HMSN I — HMSN Type I — Neuropathy, Type I Hereditary Motor and Sensory — Charcot-Marie-Tooth Disease, Type IA — Charcot Marie Tooth Disease, Type IA — Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A — Charcot-Marie-Tooth Disease, Demyelinating, Type 1A — Charcot-Marie-Tooth Disease, Type 1A — Charcot Marie Tooth Disease, Type 1A — Charcot-Marie-Tooth Neuropathy, Type 1A — Charcot Marie Tooth Neuropathy, Type 1A — Hereditary Motor and Sensory Neuropathy 1A — Hereditary Motor and Sensory Neuropathy IA — HMSN 1A — HMSN IA — HMSN1A — Charcot-Marie-Tooth Disease, Type IB — Charcot Marie Tooth Disease, Type IB — Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy — Charcot-Marie-Tooth Disease, Type 1B — Charcot Marie Tooth Disease, Type 1B — Charcot-Marie-Tooth Neuropathy, Type 1B — Charcot Marie Tooth Neuropathy, Type 1B — Hereditary Motor and Sensory Neuropathy 1B — Hereditary Motor And Sensory Neuropathy IB — HMSN 1B — HMSN IB — HMSN1B — Charcot-Marie-Tooth Disease, Demyelinating, Type 1B — Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B