Ataxias are a group of neurological disorders linked by their symptoms which include effects to balance, movement, coordination, and speech. There are many different types, and therefore causes, of ataxia. Neuromics focuses on an inherited form known as spinocerebellar ataxia (SCA) which has several sub-types. Symptoms of SCA may include muscle weakness and stiffness, feeding difficulties and degenerating sight, sometimes resulting in blindness.
SCA is caused by a fault (or mutation) in a particular gene. Usually, in SCA, extra bits of code have been added causing the mutated gene to be longer than normal. Most forms of SCA begin in adulthood but the age of onset is younger and the disease more severe with the increasing length of the mutated gene. If a parent has SCA, they have one copy of the faulty gene and have a 50% chance of passing the disease onto their children. This type of inheritance is called autosomal dominant. So far, more than 35 different SCA genes have been identified. However, many patients still do not know what their mutation is.
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