Peroneal muscular atrophy

A group of inherited neuromuscular diseases characterized by wasting of the extremities, particularly the peroneal muscle groups of the lower legs. People with peroneal muscular atrophy are sometimes said to have “stork legs.”


A uncommon genetic condition marked by muscle degeneration, initially in the feet and calves and later in the hands and forearms. Often referred to as Charcot–Marie–Tooth disease, it arises due to the deterioration of certain peripheral nerves. The condition typically manifests in late childhood or during the teenage years.


The muscle degeneration usually halts midway up the arms and legs, giving them an inverted bottle-like appearance, and there might be a loss of sensation. While there’s no cure for this condition, it’s uncommon for individuals to become fully disabled as the progression of the disease is typically slow. Those with the condition generally have a normal lifespan.


A unique form of muscular atrophy often seen in multiple family members. It typically begins in mid-childhood, lasts for about 20 years, then stabilizes. Starting in the feet, it impacts muscles in the lower leg and up to the lower third of the thigh before halting. A similar progression can begin in the hands, advancing to the mid-forearms, but can stop at any point. Despite the evident muscle wasting, paralysis, and sometimes sensory loss, a notable aspect of this condition is the relatively mild disability it causes. It’s also referred to as Charcot-Marie-Tooth muscular atrophy or neuritic muscular atrophy.


 


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