What is Hereditary Ataxias?
- autosomal dominant pattern – inherited when one parent carries a copy of the defective gene
- autosomal recessive parent – inherited when both parents carry a copy of the defective gene
- x-linked pattern – inherited from the mother
The first type of Ataxia was identified in 1993. It was an autosomal dominant type known as Spinocerebellar Ataxia Type 1 (SCA1). Other similar dominant type genes were found (SCA2 and SCA3). Currently there are 36 mutations of SCA from SCA1 to SCA36.
The common recessive ataxias are Friedrich’s Ataxia (FRDA), Oculomotor Apraxia Type 1 and Type 2 (AOA1 and AOA2).
- unsteady gait
- poor hand, eye and speech coordination
- slurring speech
- trouble with fine motor tasks
- trouble with swallowing
- neuroimaging – a CT/MRI scan of the brain can enable detection of ataxia if it indicates a shrinkage of the cerebellum and other brain structures
- spinal tap or lumbar puncture – this test enables collection of a sample of spinal fluid for analysis
- genetic testing – to check for various genotypes of ataxia. Not all ataxias can be genetically tested
Currently, specific treatment is available for the ataxias. Treatment is aimed at preventing complications and enabling independent living. An interdisciplinary team of doctors including neurologists, orthopedicians and physiotherapists will be required to take care of the clinical needs of the child/adult. In the early stages when just diagnosed, it is important to immediately start physiotherapy and rehab to prevent further deterioration and maintain a certain level of mobility.
Physiotherapy is highly recommended to preserve muscle strength. Wheelchairs may be required in some cases. Adaptive devices are also useful to perform daily tasks. Some of the devices include specialized crutches and sticks, special utensils for eating and communication aids. Other helpful therapies include occupational therapy and speech therapy.
Children and adults with Ataxia must be encouraged to participate in all life activities and must be encouraged to go to regular schools, colleges and participate in social activities. Genetic counselling and psychosocial counselling must be made available whenever required with other supportive measures.
If there is a known case of Ataxia in the family, it is absolutely essential for closest female relatives like siblings, uncles, aunts and cousins to test for carrier status.
If a woman with a carrier status is pregnant, prenatal test is essential to determine if the fetus has the disease mutation.