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Charcot-Marie-Tooth Disease
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)
Year introduced: 2000(1966)
Charcot-Marie-Tooth disease, Type 2B2 [Supplementary Concept]
Date introduced: August 25, 2010
Charcot-Marie-Tooth Disease, Dominant Intermediate B [Supplementary Concept]
Date introduced: November 5, 2012
Charcot-Marie-Tooth disease, Type 4A, axonal form [Supplementary Concept]
Charcot-Marie-Tooth disease, Type 2B1 [Supplementary Concept]
Charcot-Marie-Tooth disease, Type 2B [Supplementary Concept]
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 [Supplementary Concept]
Charcot-Marie-Tooth Disease, Axonal, Type 2A2 [Supplementary Concept]
PROM
Charcot-Marie-Tooth Disease, Type 4H [Supplementary Concept]
Charcot-Marie-Tooth disease, Type 2D [Supplementary Concept]
Charcot-Marie-Tooth disease, Type 2A [Supplementary Concept]
Charcot-Marie-Tooth disease, Type 4B1 [Supplementary Concept]
mutation in MTMR2
Charcot-Marie-Tooth disease, Type 2K [Supplementary Concept]
Charcot-Marie-Tooth disease, Type 2J [Supplementary Concept]
Charcot-Marie-Tooth disease, Type 2I [Supplementary Concept]
Charcot-Marie-Tooth disease, Type 2H [Supplementary Concept]
Charcot-Marie-Tooth disease, Type 2F [Supplementary Concept]
Hereditary Sensory and Motor Neuropathy
A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Year introduced: 2000(1989)
Charcot-Marie-Tooth Disease, Axonal, Type 2n [Supplementary Concept]
Charcot-Marie-Tooth Disease, Type 4j [Supplementary Concept]