Peroneal Muscular Atrophy, also known as Charcot-Marie-Tooth disease (CMT), is a hereditary neurological disorder that primarily affects the peripheral nerves, leading to muscle weakness, wasting, and sensory loss, particularly in the lower limbs. It is named after the three physicians who first described it in 1886.
This condition is characterized by progressive degeneration of the peroneal (fibular) muscles, which are responsible for foot dorsiflexion and the ability to lift the front part of the foot. This leads to foot drop and a high-stepped gait, as the affected individual relies on the hip muscles to compensate for weak leg muscles. Over time, muscle weakness can spread to the hands and forearms.
Peroneal Muscular Atrophy is classified into different types based on the age of onset, presentation, and inheritance pattern. The most common form of CMT is CMT1, which is associated with demyelination of the peripheral nerves. CMT2 is characterized by axonal degeneration, and CMTX is an X-linked form of the disease that generally affects males more severely than females.
Symptoms typically emerge during childhood or adolescence and progress over time but at a varying pace, depending on the specific type and individual variation. Other features may include foot deformities, such as high arches or hammertoes, sensory abnormalities like decreased reflexes and loss of sensation, as well as potential involvement of the respiratory and vocal cord muscles.
Although there is no cure for Peroneal Muscular Atrophy, management focuses on alleviating symptoms, maintaining mobility, and preventing complications such as falls and deformities. Physical therapy, orthopedic devices, and pain management strategies form an essential part of the treatment plan. Genetic counseling may
