What is spinocerebellar ataxia type 8?
Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). This condition typically occurs in adulthood and usually progresses over decades.
What does spinocerebellar ataxia affect?
Ataxia is a degenerative disease affecting the nervous system, presenting poor coordination and movement, difficulties with speech, walking, fine motor skills, swallowing, and vision. It mainly affects people over 18 (adult-onset).
What are the characteristics of ataxia?
A sign of a number of neurological disorders, ataxia can cause:
- Poor coordination.
- Unsteady walk and a tendency to stumble.
- Difficulty with fine motor tasks, such as eating, writing or buttoning a shirt.
- Change in speech.
- Involuntary back-and-forth eye movements (nystagmus)
- Difficulty swallowing.
What is spinocerebellar ataxia type 7?
Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain).
What causes SCA8?
SCA8 is caused by a trinucleotide repeat on 13q21 that produces a polyglutamine expansion in the ataxin 8 gene (ATXN8).
How is spinocerebellar ataxia treated?
Ataxia Treatment Options Examples of treatable ataxias include those due to deficiencies of vitamin E or coenzyme Q10, and episodic ataxia type 2. Drug therapies are available to reduce leg spasticity and address some cerebellar tremors. Several medications can be used for specific symptoms of spinocerebellar ataxia.
What does ataxia mean in medical terms?
Ataxia is typically defined as the presence of abnormal, uncoordinated movements. This usage describes signs & symptoms without reference to specific diseases. An unsteady, staggering gait is described as an ataxic gait because walking is uncoordinated and appears to be ‘not ordered’.
What is ataxia medical term?
Ataxia is a term for a group of disorders that affect co-ordination, balance and speech. Any part of the body can be affected, but people with ataxia often have difficulties with: balance and walking. speaking. swallowing.
What is the pathophysiology of spinocerebellar ataxia 8 (SCA8)?
Spinocerebellar ataxia 8 (SCA8) is more genetically complex than other SCAs. [3] Typically, a genetic disorder is considered autosomal dominant if only one copy of the defective gene needs to be inherited in order to develop the disease, and autosomal recessive if two copies of the defective gene…
Is spinocerebellar ataxia autosomal dominant or recessive?
Mode of Inheritance Spinocerebellar ataxia type 8 (SCA8) is inherited in an autosomal dominantmanner.
What is the prognosis of cerebellar atrophy (SCA8)?
Results: SCA8 is a slowly progressive, predominantly cerebellar ataxia with marked cerebellar atrophy, affecting gait, swallowing, speech, and limb and eye movements. CTG tracts are longer in affected (mean = 116 CTG repeats) than in unaffected expansion carriers (mean = 90, p < 10 −8 ).
Where can I find information about spinocerebellar ataxia genetic testing?
Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testingis a booklet providing information about spinocerebellar ataxiaand is available as a PDF document on the University of Washington Medical Center Web site. Click on the title above to view this resource. Find a Specialist Find a Specialist Listen