Dominantly Inherited Spinocerebellar Ataxia (DISCA), also known as autosomal dominant spinocerebellar ataxia (ADSCA), refers to a group of genetic neurodegenerative disorders characterized by progressive degeneration of the cerebellum and spinal cord. This condition is inherited in an autosomal dominant pattern, meaning that the affected individual has a 50% chance of passing the mutated gene to their offspring.
Spinocerebellar ataxia (SCA) itself is a term used to describe a range of diseases with similar symptoms and genetic mutations that primarily affect movement coordination. Symptoms of DISCA typically emerge in adulthood, usually between the ages of 30 and 50, although onset can occur at any age. Common symptoms include unsteady gait, loss of coordination and balance, impaired speech and swallowing, and general muscle weakness.
DISCA results from mutations in specific genes involved in the production of certain proteins required for the normal functioning of cerebellar and spinal cord cells. Currently, over 40 different types of DISCA have been identified, each caused by mutations in different genes. The severity, age of onset, and specific symptoms may differ depending on the underlying genetic mutation.
Diagnosis of DISCA involves a combination of clinical assessments, genetic testing, neurological examinations, and imaging studies such as magnetic resonance imaging (MRI) scans. Although there is currently no cure for DISCA, symptomatic treatment approaches aim to manage the specific symptoms and improve the quality of life for affected individuals. Physical therapy, occupational therapy, and speech therapy may be utilized to address mobility, coordination, and communication issues. Genetic counseling is also beneficial for affected individuals and their families to understand the inheritance pattern and make informed decisions.
