Charcot-Marie-Tooth Disease

Charcot-Marie-Tooths sjukdom

Svensk definition

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.

Engelsk definition

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)

Svenska synonymer

CMT HMSN typ I HMSN typ II

Engelska synonymer

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 Hereditary Neuropathy Charcot Marie Tooth Hereditary Neuropathy Hereditary Neuropathy, Charcot-Marie-Tooth Atrophy, Muscular, Peroneal Charcot-Marie Disease Charcot Marie Disease Charcot-Marie-Tooth Syndrome Charcot Marie Tooth Syndrome Syndrome, Charcot-Marie-Tooth Roussy-Levy Syndrome Roussy Levy Syndrome Syndrome, Roussy-Levy Roussy-Levy Hereditary Areflexic Dystasia Roussy-Levy Disease Roussy Levy Disease Hereditary Areflexic Dystasia Areflexic Dystasia, Hereditary Areflexic Dystasias, Hereditary Dystasia, Hereditary Areflexic Dystasias, Hereditary Areflexic Hereditary Areflexic Dystasias Roussy Levy Hereditary Areflexic Dystasia Hereditary Type I Motor and Sensory Neuropathy Hereditary Motor, and Sensory Neuropathy Type I Neuropathy, Type I Hereditary Motor and Sensory HMSN I HMSN Type I Charcot-Marie-Tooth Disease, Type I Charcot Marie Tooth Disease, Type I HMN Distal Type I HMSN Type II Neuropathy, Type II Hereditary Motor and Sensory HMSN 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 Charcot-Marie-Tooth Disease, Type IA Charcot Marie Tooth Disease, Type IA Charcot-Marie-Tooth Disease, Demyelinating, Type 1A Charcot-Marie-Tooth Disease, Type 1A Charcot Marie Tooth Disease, Type 1A HMSN1A Hereditary Motor and Sensory Neuropathy 1A Hereditary Motor and Sensory Neuropathy IA HMSN 1A HMSN IA Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A Charcot-Marie-Tooth Neuropathy, Type 1A Charcot Marie Tooth Neuropathy, Type 1A Charcot-Marie-Tooth Disease, Type IB Charcot Marie Tooth Disease, Type IB Charcot-Marie-Tooth Disease, Demyelinating, Type 1B Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy Charcot-Marie-Tooth Disease, Type 1B Charcot Marie Tooth Disease, Type 1B HMSN1B Hereditary Motor and Sensory Neuropathy 1B Hereditary Motor And Sensory Neuropathy IB HMSN 1B HMSN IB Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B Charcot-Marie-Tooth Neuropathy, Type 1B Charcot Marie Tooth Neuropathy, Type 1B