Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN), is a group of inherited disorders that affect the peripheral nerves, resulting in muscle weakness and sensory loss in the limbs. It is named after the three physicians who first described the condition: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.
CMT is caused by genetic mutations that disrupt the normal structure and function of the peripheral nerves, leading to their degeneration over time. This nerve damage primarily affects the motor nerves, which control muscle movement, and the sensory nerves, responsible for transmitting sensations such as pain, touch, and temperature. The ongoing degeneration of these nerves can cause muscle weakness, atrophy, loss of sensation, and deformities in the limbs.
The symptoms of CMT can vary widely depending on the specific genetic mutation involved. Common signs include difficulty with walking or balance, foot deformities (such as high arches or hammertoes), reduced muscle strength in the legs and arms, loss of deep tendon reflexes, and decreased sensation in the limbs. Some individuals may also experience foot drop, where they have difficulty lifting the front part of their foot while walking.
CMT is a progressive disease, meaning that symptoms usually worsen over time. However, the severity and progression can differ greatly between individuals. Treatment for CMT focuses on managing symptoms and providing supportive care, such as physical therapy, orthotic devices (braces or splints), pain management, and assistive devices (such as canes or walkers) to maintain mobility and improve quality of life.
