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Motor sensory neuropathy type 1 cutis congenital

Motor sensory neuropathy type 1 cutis congenital Causes

The absence of proteins is said to be the cause of the disorder. Proteins are very essential for the nerves to normally function so the absence of said chemical substances leads to dysfunction in either the axon or the myelin sheath of the nerve cell.

Motor sensory neuropathy type 1 cutis congenital Definition

Known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, Charcot-Marie-Tooth disease (CMT) is characterized by loss of muscle tissue and touch sensation, primarily in the feet and legs but also in the hands and arms in the advanced stages of disease. The disease is presently incurable and is one of the most common inherited neurological disorders, with 37 in 100,000 affected.

Motor sensory neuropathy type 1 cutis congenital Diagnosis

Genetic testing is a definitive diagnosis not only for a specific type of CMT but also for most types. Some genetic markers however have not yet been identified. A diagnosis can also be established via an electromyography examination and nerve biopsy. The former can show that the velocity of nerve impulse conduction is decreased and the time required to charge the nerve is increased.

Motor sensory neuropathy type 1 cutis congenital Symptoms and Signs

Symptoms of the disease usually begin in late childhood or early adulthood. The initial symptom though is foot drop in the early course of the disease and can also cause claw toe, where the toes are always curled. Stork leg or an inverted bottle appearance may result from wasting of the muscle tissue on the lower parts of the legs. Later in life, weakness in the hands and forearms may be experienced by patients later in life. Progression of the disease as well as the symptoms can vary. Some patients' breathing may be affected, hearing, vision, and the neck and shoulder muscles to the others. Scoliosis is also common and malformation of the hip sockets is possible.

Motor sensory neuropathy type 1 cutis congenital Treatment

There is still no current standard treatment for the disease but the use of ascorbic acid has been proposed. Tests have shown some benefit in animal models. A clinical trial is currently being conducted to determine the effectiveness of high doses of ascorbic acid in treating humans with CMT type 1A. However, not all types of CMT are expected to respond to this treatment. Corrective surgical procedures can also be done to improve physical condition of patients.

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