Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease that has multiple types. It is characterized by slowly progressive incoordination of gait, often associated with poor coordination of the hands, speech, and eye movements.Associated behavioral and emotional changes are often present. It is also known as spinocerebellar degeneration or spinocerebellar atrophy.

Structure and Function of the Cerebellum in Brief

The cerebellum is a lobulated structure at the posterior part of the brain, below the cerebral cortex and behind the brainstem. It is divided by a set of large folds into ten smaller lobules. The cerebellum is a prominent feature of the hind brain (rhombencephalon) and due to its unique structure and location, it is easily identifiable in the context of other structures of the brain.

Both clinical observations and experimental evidence have established that the cerebellum is primarily responsible for motor coordination. Every movement of the body parts need to be carefully timed and coordinated. Consequently, the movements are smooth and regulated. These functions are very crucial yet so precise that they are not noticed, except by the trained eye. The importance of the cerebellum becomes evident during disease or injury, when various movement disorders are observed, such as in SCA. Patients having a damaged cerebellum have problem in keeping balance and maintaining muscle coordination.

SCAs are inherited from parents to offspring. The defective genes are passed on to the children and therefore, these gene mutations are present from birth. The pattern of inheritance is autosomal dominant inheritance.

What are the Symptoms of Spinocerebellar Ataxia?

The symptoms of SCA generally vary with the specific type involved. The symptoms can also vary from patient to patient. Generally, it is characterized by clumsy movements and progressive deterioration in physical ability, although the patient may retain full mental capacity. Although the symptoms generally appear in the third decade of life, they can also appear during childhood or in old age.

What are the Treatment Options for Spinocerebellar Ataxia?

There is currently no specific treatment for SCA, which is a progressive disease that deteriorates over time. However, not all types cause equally severe disability. Specific treatments may become available in the future with further ongoing research.

Currently, the treatment is symptomatic and is aimed at alleviating the symptoms only, without any scope of treating the disease itself. A patient suffering from SCA will likely become wheelchair bound for life and require help for performing daily tasks.

Some of the strategies for managing SCA patients under various circumstances are briefly highlighted below:

• Impairment of Gait and Posture: Initially, exercises may be recommended for improving balance. Mobility assistive devices such as canes, walkers, and crutches can be used for maintaining balance while walking. If these fail, the only remaining option is a wheelchair.
• Impairment of Hand and Arm Movements: Provision for assistive devices to help with writing, feeding, and performing self-care activities.
• Impairment of Speech: Speech therapy and assistive devices may be provided for increasing communication capability.
• It should be noted that besides ataxia, many patients may exhibit other symptoms as well. These include depression, stiffness, tremor, spasticity, and sleep disorders. For these conditions, standard medical treatment can be given to alleviate the symptoms.
  

  Can Spinocerebellar Ataxia be Prevented?

  Today’s medical technology is not adequately advanced to prevent SCA. However, technology is available to accurately identify the mutated gene in a patient with SCA. The next step is to correct this gene defect, which requires gene therapy. Gene therapy is still in its infancy and primarily confined to the research domain. However, it is hoped that in the near future, it will be possible to replace the defective gene with its healthy counterpart, and this could be done even before the disease manifests.