Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 6 (SCA6) is a progressive movement disorder characterized by problems with coordination, balance, speech difficulties, and involuntary eye movements, typically beginning in mid-to-late adulthood.
Description
Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia).
Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. People with this disorder may require walking or mobility assistance later in life.
Frequency
The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 individuals.
Causes
Variants (also known as mutations) in the CACNA1A gene cause SCA6. The CACNA1A gene provides instructions for making a protein that forms a part of some calcium channels. These channels transport positively charged
