Spinocerebellar Ataxia is a progressive, degenerative condition that is classified as a rare disease. As a genetic condition, it can be passed on by members of the family who carry the disease-causing genes without displaying any of the symptoms themselves. At present, doctors have identified about 20 different subtypes of Spinocerebellar Ataxia, each of which has its own unique symptoms but most of which have a lot in common. Let’s take a closer look at how this condition manifests.
Understanding Spinocerebellar Ataxia
Spinocerebellar Ataxia, Spinocerebellar Atrophy, or Spinocerebellar Degeneration is a genetic disease caused by either a recessive or dominant gene. It refers to a group of ataxias that are known to be hereditary and cause harm to the cerebellum, the part of the brain which maintains balance and controls movements. Spinocerebellar Ataxia may result in non-coordinated gait, impaired hand-eye coordination, and abnormal speech. Because this condition affects the nervous system, it is also known as a nervous disorder. The best Spinocerebellar Ataxia treatment includes Stem Cell Therapy as well as extensive Neuro-rehabilitation, including Physiotherapy, Occupational Therapy, and Speech and Language Therapy.
Symptoms of Spinocerebellar Ataxia
Spinocerebellar Ataxia is divided into several subtypes, distinguished by numbers. The numbers do not indicate an increase in severity, but the order in which they were linked to a specific chromosome. For all the subtypes of Spinocerebellar Ataxia, patients will experience a progressive difficulty with walking and other voluntary movements. This is known as ataxia, which simply refers to uncoordinated movement of all kinds. Patients will also experience difficulties with speech and swallowing. In addition, several subtypes have their own unique characteristics, which we can discuss as follows.
- SCA2 causes slow eye movements and may often involve dementia
- SCA4 causes sensory loss
- SCA5 manifests earlier than most subtypes, in the patient’s twenties and thirties. Disease progression, however, is slow
- SCA7 leads to vision loss
- SCA10, a rare subtype, can occasionally cause seizures
- SCA13, another rare subtype, manifests in childhood and leads to shorter stature and some mental retardation
- For several types of Spinocerebellar Ataxia, the disease can continue progressing for decades and the patient may have a normal lifespan. However, subtypes like SCA1, SCA2, and SCA3 have an average prognosis of 10-15 years
Diagnosing Spinocerebellar Ataxia
There is no specific diagnostic procedure for Spinocerebellar Ataxia, and in most cases a doctor will rule out other conditions with similar symptoms first. Blood tests, medical history, and genetic history also help to diagnose exactly which type of Spinocerebellar Ataxia the patient has. An MRI or a CT scan can indicate shrinkage of the cerebellum, which will help to track disease progression. However, it is important to remember in this regard that genetic testing can only identify about 60% of hereditary ataxias. There are several types for which the patient may display normal genetic results. As more cases of different subtypes are diagnosed, genetic tests will become more refined.
Treatment options for Spinocerebellar Ataxia
At present, there is no cure for any of the ataxias. Physical therapy is the best Spinocerebellar Ataxia treatment for controlling muscle spasms, enhancing mobility and improving balance. Assistive devices like crutches or walkers can also help patients get around better. People affected by the most common subtypes – SCA1, SCA2, SCA3, and SCA6 – will require a wheelchair about 10 to 15 years after the diagnosis, as well as eventual assistance with daily tasks. In addition, Stem Cell Therapy and Occupational Therapy can help manage the day-to-day symptoms and give the patient greater independence.
While Spinocerebellar Ataxia currently has no cure, extensive research is underway to learn more about this rare disease, how it manifests, and how it can be kept in check or even reversed. By getting an early diagnosis and embarking on the best Spinocerebellar Ataxia treatment, the patient can enhance their range of motion and enjoy a higher quality of life with their friends and family.