National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Charcot-Marie-Tooth disease type 4

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Other Names:
Autosomal recessive demyelinating Charcot-Marie-Tooth; AR-CMT1; CMT4
Subtypes:
Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease type 4B1; Charcot-Marie-Tooth disease type 4B2; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease type 4B1; Charcot-Marie-Tooth disease type 4B2; Charcot-Marie-Tooth disease type 4C; Charcot-Marie-Tooth disease type 4D; Charcot-Marie-Tooth disease type 4E; Charcot-Marie-Tooth disease type 4F; Charcot-Marie-Tooth disease type 4H; Charcot-Marie-Tooth disease type 4J See More
This disease is grouped under:
Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic group. In general, people with CMT4 develop symptoms of leg weakness in childhood and by adolescence they may not be able to walk. Other signs and symptoms include distal muscle tissue loss (muscle atrophy) associated with sensory loss and, an abnormally high arched foot (pes cavus). Sub-types may have slightly different clinical features between them. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SH3TC2 (CMT4C), NDG1(CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 is distinguished from other forms of CMT by its autosomal recessive inheritance. Treatment is symptomatic and includes physical therapy, corrective surgery (when needed) and pain medication.
Last updated: 3/8/2016

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