Charcot-Marie-Tooth Disease (CMT)
CMT4
What is Charcot-Marie-Tooth disease type 4 (CMT4)?
CMT4 is a rare subtype of CMT, a genetic, neurological disorder that causes damage to the peripheral nerves — tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs. CMT4 is a subtype of CMT that is inherited in an autosomal recessive pattern. Individuals with CMT4 present a typical CMT phenotype, such as foot deformities, sensory loss, atrophy, and distal muscle weakness.36
What are the symptoms of CMT4?
CMT4 causes weakness, usually mostly distal but sometimes involving proximal (near the center of the body) muscles. Impairment or changes in sensations (such as the sense of touch or ability to perceive temperature changes) also can occur. When CMT4 begins in infancy, it is characterized by low muscle tone. CMT4 patients may also develop other symptoms such as cataracts or deafness. Generally, cases of CMT4 present with more severe symptoms compared to CMT1 or CMT2. Since some of the symptoms are severe and the onset can be early, some subtypes of CMT4 may also be called Severe, Early-Onset CMT. See Signs and Symptoms for more.
What causes CMT4?
In general, CMT4 is caused by defects in the myelin sheath that insulates the axon.
Diagnosis | Associated Gene |
---|---|
CMT4A | GDAP1 37 |
CMT4B1 | MTMR2 38,39 |
CMT4B2 | SBF2 40,41,42,43,44 |
CMT4B3 | SBF145 |
CMT4C | SH3TC2 46 ,47,48,49,50 |
CMT4D | NDRG1 51,52 |
CMT4E | EGR2 53 |
CMT4F | PRX 54,55 |
CMT4G | HK1 57 |
CMT4H | FDG4 58,59,60 |
CMT4J | FIG4 61,62 |
References
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