Charcot Marie Tooth Disease
Charcot Marie Tooth Disease Causes
The Charcot-Marie-Tooth disease is caused by the lack of appropriate proteins which are needed by the nerves to function normally. The absence of this substances lead to dysfunctions in the other parts of the nerve cell such as the axon and myelin. Disrupted myelin production affects the whole behavior of the cell causing mitochondrion clots in the nerve cells, leading to failed synapses establishing the onset of the disease.
Charcot Marie Tooth Disease Definition
The Charcot-Marie-Tooth disease is an inherited heterogeneous disease characterized by the death of muscle tissue and loss of touch sensation. It usually attacks the legs and feet but also triggers the arms and hands as the disease progresses. It is also known as Peroneal Muscular Atrophy or Hereditary Motor and Sensory Neuropathy, and is incurable at present. The disease is named after scientists who took the effort to do research on it, Jean-Martin Charcot and his student Pierre Marie, as well as Howard Henry Tooth.
Charcot Marie Tooth Disease Symptoms and Signs
Persons with Charcot-Marie-Tooth disease usually experience symptoms during adolescence or late childhood. One of the earliest signs of the disease is foot drop, which is caused by the peroneal nerve, one of the affected nerves at the onset of the disease. Claw toes or curled toes may as well be observed, and legs begin to appear like those of a stork or an inverted bottle. Sometimes the person may feel extreme weakness in the arms and hands as well. As the disease progresses, the patient may experience breathing difficulties as well as hearing impairments, loss of vision, stiff neck and pain in the shoulders. Scoliosis begins to develop as well as the malformation of the hip sockets. The patient may also suffer from gastrointestinal problems like chewing, and swallowing. The vocal chords may be affected and start to atrophy. The Charcot-Marie-Tooth disease is further exacerbated by pregnancy and emotional stress thus patients with the disease should avoid being in the said conditions. Also, the chemical substance vincristine, which is used for chemotherapy, has been proven to be hazardous and should not be taken by CMT patients.
Charcot Marie Tooth Disease Treatment
At present there is no standard treatment for the Charcot-Marie-Tooth disease, but ascorbic acid has been suggested to help cure the disorder. There has been a clinical trial of using ascorbic acid on CMT patients, and high doses of Vitamin C have been used on the said patients, but not all of them are expected to respond positively to the treatment.