A genetic mutation, Spinocerebellar Ataxia causes the muscles of the body to be less coordinated than they should be. This affects motor behaviours such as speech and walking, as well as limiting the extent to which a sufferer can make precise movements (such as grasping a pen). Spinocerebellar Ataxia is a neurodegenerative disorder. Put in common terms, a child born with Spinocerebellar Ataxia will get more and more 'clumsy' as their life progresses. Spinocerebellar Ataxia can also affect the life expectancy of a sufferer, and the ways in which it does so are outlined below.
Spinocerebellar Ataxia is not a single specific syndrome or disorder. Rather, it is the name that is given to a group of genetic neutrodegenerative disorders that all have relatively similar symptoms. It is caused by genetic mutations, and it is also inherited. As a result, if one of your parents has Spinocerebellar Ataxia, you have a greater than 50% chance of developing it yourself. Sufferers of Spinocerebellar Ataxia tend to experience more and more difficulty walking, speaking and coordinating their hand movements and other gestures. These symptoms are exacerbated by the tremors that also frequently accompany the disease. Visual coordination is also commonly affected by Spinocerebellar Ataxia. In addition, swallowing can become difficult - as this is an activity that requires a high degree of muscle coordination - and so a patient with Spinocerebellar Ataxia will often regurgitate their food as they eat instead of swallowing. As it is a degenerative disorder, the symptoms of Spinocerebellar Ataxia will get worse and worse.
There is currently no cure for this condition, however, there are certain treatments that can help an individual with the disorder live as full and comfortable life as possible. These include the provision of a cane for walking, the use of occupational therapy and speech therapy, and taking muscle relaxants to reduce tremors and ease any difficulty involved in swallowing food. Physical therapy can also be very helpful here in countering the increasing decay in the coordination of the sufferer's muscles. A physical therapist can help a Spinocerebellar Ataxia sufferer to 'train' their muscles to coordinate more fully. As mentioned above, these therapies and medicines are aimed more at managing than at curing the disease.
Currently, research states that the life expectancy of a child born with Spinocerebellar Ataxia will be 19-25 years. Of course, life expectancy will be optimised if proper medicines and therapy are given and 24 hour care is provided to prevent any accidental deaths from choking on regurgitated food. It is to be hoped that in the future a cure for this condition will be found so that it will no longer act as a force that limits the life expectancy of members of the human population.