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Charcot-Marie-Tooth disease type 2P (CMT2P) is a subtype of Charcot-Marie- Tooth caused by changes (mutations) in the LRSAM1 gene. The onset of symptoms commonly occurs between 20 and 40 years of age and the disease seems to be relatively mild and benign. Symptoms may include mild loss of sensation in the fingertips and severe loss of sensation in the feet and legs. The most common type of sensation loss is to vibration, but proprioception (the sense of how we are oriented in space) and perception to pain may also be affected. Individuals with CMT2P may also have muscle twitches (fasciculations) and cramps (in younger patients) and muscular weakness and muscular wasting in the legs, feet and hands (in older individuals). It may be inherited in an autossomal dominant or autossomal recessive pattern.
Source: GARD Last updated on 05-01-20
The onset of symptoms in the reported cases is between 20 to 40 years of age and the disease seems to be relatively mild and benign. Affected individuals may have the following signs and symptoms:
• Mild loss of sensation on fingertips and severe loss of sensation in feet
and legs, most markedly to vibration but also involving proprioception (the
sense of how we are oriented in the space) and pain perception.
• Muscle twitches (fasciculations) and cramps in younger patients.
• Muscular weakness in legs and hands in older individuals.
• Wasting of muscles of the hand and legs and feet.
• Absent reflexes.
• Motor nerve conduction studies are usually normal.
• Needle EMG may show giant motor units potentials (MPU) both in proximal and distal muscles of all patients. The motor unit is a part of the neuromuscular system that contains a cell, its axon, and all of the muscle fibers that it innervates, including the axon's specialized point of connection to the muscle fiber, the neuromuscular junction. In routine needle- electrode examination (electromyography (EMG) of voluntary muscle contraction, the consultant assesses the electrical signal generated by the MUs, termed the "MU action potential" (or MUAP). Needle EMG findings suggestive of denervation include giant MUP.
Last updated on 05-01-20
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