Neural amyotrophy

Neural amyotrophy (Charcot-Marie-Tooth disease) is a slowly progressing hereditary group of the diseases the main characteristic of which is the atrophy of the peripheral muscles. The main type of the transfer is autosomal-dominant; autosomal-recessive is rarer. The morphological basis is provided by the degenerative changes in the peripheral nerves and nerve roots. Muscle changes are of neurogenic character. This type of muscular dystrophy manifests at age from 6 to 12. The main symptom is the amyotrophy that start from the distal areas of lower limbs. The feet start hanging and a specific gait develops, a so-called “steppage”.

Feet muscle atrophy leads to the claw-shaped toes and foot deformity reminds Friedreich's foot. Atrophy can spread to the lower part of hips. A leg shape reminds a bottle turned upside down. Muscle atrophy spreads to the upper limbs. Hands look like bird arms. The fascicular twitches are observed in the muscle groups. The tendon reflexes disappear, sometimes pseudo-Babinski syndrome develops. The sensation disorders are typical for neural amyotrophy. Pains might develop in the neural trunks; trophic disorders such as edema and cyanosis are observed. The disease progresses slowly. The treatment is symptomatic. The risk of having a sick child is 50%.