Spino-Cerebellar ataxia is also known as spinocerebellar atrophy or spinocerebellar degeneration. It is a degenerative, progressive genetic disease which has multiple types and every type is a disease in its own. The cause of this disease is the dysfunction of the cerebellum.
Spinocerebellar ataxia causes some problems which are related to our brain such as:
- Hypotonia (floppiness)
- Lack of coordination between organs, muscles, limbs or joints.
Signs and symptoms
At the initial stage, people experience ataxia. Other symptoms are listed below:
- Speech difficulty
- Difficulty in swallowing
- Spasticity (stiffness in muscles)
- Weakness in the muscles
- Nystagmus (involuntary eye movement)
- Difficulty in learning, processing and remembering information (i.e. known as cognitive impairment)
Cause of spinocerebellar ataxia
- Degeneration of cerebellum due to alcohol
- Phenytoin-induced cerebellar degeneration
- Friedrich ataxia
- Paraneoplastic cerebellar degeneration
- Inherited spinocerebellar ataxia
- Telangiectasia ataxia
- Acquired hepatolenticular degeneration
- Tumors in posterior fossa and malformations
Few of the spinocerebellar ataxia have been unknown and cannot be earlier diagnosed. But in last few years genetics gave much new identification of different types of spinocerebellar ataxia and many tests are being added per year. In 2008, a blood test was done on the basis of genetic ataxia for 12 different types of SCA. First ataxia gene was discovered in 1993 and it is known as SCA 1. Till now there are 29 different types of gene mutants have been found.
There is no treatment for this disease, it is considered to be an irreversible and progressive disease.
In local, treatments are projected towards alleviating symptoms, not towards the disease. For some of the symptoms, medications and other therapies are appropriate which includes the symptoms like stiffness, tremors, spasticity, and disorders which are related to sleep. Generally, a patient who is suffering from this disease is not able to do daily tasks. Where ever, rehabilitation therapists are able to help the patients in maximizing their ability to care themselves and they also help them to delay the deterioration t certain extent. Now a day’s researchers are finding many places for the cure which includes RNAi and the use of the stem cells and many other places. Dr. Davidson and Dr. Pedro Gonzalez Alegre are working together so that they can shift this technique to phase I trial of the clinical method.
Finally, another technology of gene transfer was discovered in 2011. It is also been discovered by Dr. Davidson.
Prognosis for a person having ataxia depends on the type and the nature of ataxia. A temporary condition of ataxia is seen as a result of the trauma or the infection. Permanent disability of some degree is seen. Inherited SCA is normally progressive syndromes with symptoms start disabling over a different period of time.