Thelansis

Charcot-Marie-Tooth disease (CMT) represents a group of progressive disorders affecting peripheral nerves, leading to movement and sensory difficulties. Specifically, CMT type 2 (CMT2) primarily involves the motor system, although both motor and sensory systems are affected. Individuals with CMT2 typically experience gradual weakness and muscle atrophy in the distal muscles of the feet and hands. Depressed tendon reflexes and mild or no sensory loss are standard features. Notably, there is clinical overlap with CMT1. The subtypes of CMT2 are clinically similar and are distinguished primarily by molecular genetic findings. One notable subtype, Charcot-Marie-Tooth disease type 2C, is characterized by diaphragm and vocal cord paralysis. However, no specific genetic locus has been identified for this form. Importantly, Charcot-Marie-Tooth disease type 2C differs clinically and genetically from other CMT2 subtypes (such as 2A, 2B, 2D, 2E, and 2F) and is not allelic with distal hereditary ...