Spinocerebellar ataxia type 42

Spinocerebellar ataxia type 42 (SCA42) is a very rare inherited neurological disorder that primarily affects the cerebellum, the part of the brain responsible for coordinating movement and balance. It is caused by mutations in the CACNA1G gene, which provides instructions for making a type of calcium channel important for brain cell function. People with SCA42 typically develop problems with coordination and balance (ataxia) that tend to worsen slowly over time. Symptoms usually begin in adulthood and may include unsteady walking, difficulty with fine motor tasks, slurred speech, and involuntary eye movements (nystagmus). Some individuals may also experience mild cognitive changes or other neurological symptoms. Because SCA42 is so rare, the full range of symptoms and how the disease progresses over a lifetime is still being studied. Currently, there is no cure or disease-modifying treatment for SCA42. Management focuses on supportive care, including physical therapy to maintain mobility and balance, speech therapy if needed, and occupational therapy to help with daily activities. Medications may be used to manage specific symptoms. Research into calcium channel-related disorders continues, and understanding of this condition is growing as more families are identified worldwide.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.How quickly is this condition likely to progress in my case?,What types of physical therapy or exercise are most helpful for maintaining my balance and coordination?,Should my family members be tested for the CACNA1G gene mutation?,Are there any clinical trials or research studies I could participate in?,What assistive devices might help me stay independent longer?,How often should I have follow-up appointments, and what should be monitored?,Are there any medications that could help with my specific symptoms?

Common questions about Spinocerebellar ataxia type 42