Charcot-Marie-Tooth disease type 2P

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.