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Charcot-Marie-Tooth Disease

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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)     
See Also Myelin P0 Protein
Other names Roussy-Levy Syndrome; Peroneal Muscular Atrophy; Muscular Atrophy, Peroneal; Hereditary Motor, and Sensory Neuropathy Type I; Hereditary Motor and Sensory-Neuropathy Type II; HMSN Type II; HMSN Type I; Atrophy, Muscular, Peroneal; Type IIs, HMSN; Syndrome, Roussy-Levy; Roussy Levy Syndrome; Roussy Levy Disease; Peroneal Muscular Atrophies; Muscular Atrophies, Peroneal; Hereditary Motor and Sensory Neuropathy Type II; Hereditary Areflexic Dystasias; HMSN Type Is; HMSN Type IIs; HMSN Is; HMSN IIs
 
SubstanceCAS Registry & nameCategoriesSource
Charcot-Marie-Tooth disease, Type 4A, axonal form  0   *Charcot-Marie-Tooth Disease.
Hypertrophic neuropathy of Dejerine-Sottas  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease with ptosis and parkinsonism  0   *Blepharoptosis *Charcot-Marie-Tooth Disease *Parkinson Disease, Secondary.
Charcot-Marie-Tooth disease and deafness  0   *Charcot-Marie-Tooth Disease *Hearing Loss, Sensorineural.
Charcot Marie Tooth type 1 aplasia cutis congenita  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2E  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2D  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2C  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2B2  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2B1  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2B  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2A  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 1F  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 1E  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 1D  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 1C  0   *Charcot-Marie-Tooth Disease.
Cowchock syndrome  0   *Charcot-Marie-Tooth Disease *Hearing Loss, Sensorineural *Mental Retardation, X-Linked.
Keratoderma palmoplantar spastic paralysis  0   *Charcot-Marie-Tooth Disease *Keratoderma, Palmoplantar *Nail Diseases.
Charcot-Marie-Tooth disease, X-linked, 1  0   *Charcot-Marie-Tooth Disease.
Neuropathy, hereditary motor and sensory, LOM type  0   *Charcot-Marie-Tooth Disease *Refsum Disease.
Charcot-Marie-Tooth disease, Type 4C  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma  0   *Glaucoma *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 4B2  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 4B1  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 4A  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2K  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2J  0   *Charcot-Marie-Tooth Disease *Hearing Loss, Sensorineural.
Charcot-Marie-Tooth disease, Type 2I  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2H  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2G  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 2F  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, dominant intermediate 3  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, dominant intermediate 2  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, dominant intermediate 1  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, X-linked recessive, 3  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, X-linked recessive, 2  0   *Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth disease, Type 4E  0   *Charcot-Marie-Tooth Disease.
SCN2B protein, human  0   *Nerve Tissue Proteins *Sodium Channels Charcot-Marie-Tooth Disease. Eur J Hum Genet 1998 Nov-Dec;6(6):629-34
CDRT1 protein, human  0   *Proteins Charcot-Marie-Tooth Disease. Genomics 1997 Nov 15;46(1):61-9

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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