Health encyclopaedia

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Causes of Charcot-Marie-Tooth disease

Most commonly, CMT has an autosomal dominant inheritance pattern. This means that a child who has one parent (mother or father) who carries a single faulty gene, has a 50% chance of inheriting CMT.

The carrier does not necessarily show symptoms of CMT. Less commonly, CMT may be passed on through an autosomal recessive inheritance pattern. This means that the child must inherit two abnormal genes from the parents. Most commonly, this will mean that both parents carry a single abnormal gene, but are often not affected themselves by it. Through this inheritance pattern the child has a 25% chance of inheriting and being affected by CMT, and a 50% chance of becoming a carrier without any symptoms.

The third inheritance pattern is called x-linked recessive. This means that the abnormal gene is carried on the x chromosome and is passed from mother to son only. Daughters cannot inherit the disease in this way but can become carriers and pass it down to their sons. The son has a 50% chance of inheriting the disease from his mother. The daughter has a 50% chance of becoming a carrier. Often the mother has no symptoms of the disease at all.

Very rarely, CMT can occur spontaneously. In other words, without any inheritance pattern. This can only happen with Type 1 CMT. The disease then becomes autosomal dominant (see beginning of section)

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