What is the most common type of hereditary ataxia?
Friedreich’s ataxia is the most common type of hereditary ataxia (caused by genes you’ve inherited). It’s thought to affect at least 1 in every 50,000 people. Symptoms usually first develop before the age of 25, although it can develop in people much older than this.
What are the chances of inheriting ataxia?
The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the gender of the resulting child. Autosomal dominant hereditary ataxias have been further classified as trinucleotide repeat disorders.
How do you test for hereditary ataxia?
Genetic testing involves taking a sample of blood and testing the DNA in it for any genetic mutation known to cause ataxia. Currently, tests can detect the mutations responsible for Friedreich’s ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias.
Does ataxia run in families?
The hereditary ataxias can be inherited in an autosomal dominant, autosomal recessive, X-linked manner or through maternal inheritance if part of a mitochondrial genetic syndrome. The genetic forms of ataxia are diagnosed by family history, physical examination, neuroimaging, and molecular genetic testing.
When does hereditary ataxia start?
The diagnosis of AOA1 is based on clinical findings and confirmed by molecular genetic testing. Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between ages 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum concentration of α-fetoprotein.
Can ataxia be seen on an MRI?
Imaging studies. An MRI can sometimes show shrinkage of the cerebellum and other brain structures in people with ataxia. It may also show other treatable findings, such as a blood clot or benign tumor, that could be pressing on your cerebellum.
How can you prevent ataxia?
For example:
- ataxia with vitamin E deficiency can often be controlled or improved with vitamin E supplements.
- episodic ataxia can often be controlled with a medication called acetazolamide and by avoiding triggers such as stress, alcohol and caffeine.