Charcot-Marie-Tooth disease

What it is

Charcot-Marie-Tooth disease is a hereditary motor sensory neuropathy (HMSN), and it is autosomal dominant. This group of disorders typically leads to symmetrical, slowly progressive muscular wasting, which is distal rather than proximal, and it is that distal wasting which gives the feet and hands their shape.

How it presents

The clinical features are distal muscle weakness, scoliosis, and foot deformities: high arches and hammer toes.

HMSN type I has its onset before the age of 20 years, with distal symmetrical sensorimotor polyneuropathy. Its findings are foot drop, pes cavus deformity and hammer toe, atrophy of the calf muscles giving the stork leg appearance, and sensory loss.

Clumsiness and frequent falls, a lower leg of decreased muscle bulk that appears stork-like, multiple small injuries on the hands and feet, pes cavus and claw hand make up the picture described in a child of 6 years.

Causes and risk

It is also the hereditary entry among the causes of foot drop. Peripheral nerve lesions there give lower motor signs with patchy sensory deficits based on the involved nerves, and their causes are trauma, compression, metabolic causes such as diabetes and B12 deficiency, infectious causes, and the hereditary one, which is Charcot-Marie-Tooth.