This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Spinocerebellar ataxia type 1 (SCA1) is a progressive
movement disorder that typically begins in early adulthood (but can
affect children and older adults as well). Early signs and symptoms
includes problems with coordination and balance (ataxia), speech and
swallowing difficulties, muscle stiffness, and weakness in the muscles
that control eye movement. Over time, SCA1 may cause mental impairment,
numbness, tingling, or pain in the arms and legs and uncontrolled muscle
tensing, wasting, and twitches. SCA1 is caused by changes in the ATXN1
gene and is inherited in an autosomal dominant fashion. There is
currently not a cure for SCA1, but treatments are available to help
manage symptoms. People with SCA1 typically survive 10 to 30 years after
symptoms first appear.
For more information, visit GARD.