Spinocerebellar Ataxia Type 1Symptoms, Doctors, Treatments, Advances & More
Learn About Spinocerebellar Ataxia Type 1
View Main Condition: Movement Disorders
Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment).
Mutations in the ATXN1 gene cause SCA1. The ATXN1 gene provides instructions for making a protein called ataxin-1. This protein is found throughout the body, but its function is unknown. Within cells, ataxin-1 is located in the nucleus. Researchers believe that ataxin-1 may be involved in regulating various aspects of producing proteins, including the first stage of protein production (transcription) and processing RNA, a chemical cousin of DNA.
SCA1 affects 1 to 2 per 100,000 people worldwide.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA1 do not have a parent with the disorder.
Puneet Opal is a Neurologist practicing medicine in Chicago, Illinois. He has been practicing medicine for over 37 years. Dr. Opal is rated as an Elite provider by MediFind in the treatment of Spinocerebellar Ataxia Type 1. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Spinocerebellar Ataxia Type 1, Giant Axonal Neuropathy, Olivopontocerebellar Atrophy, and Spinocerebellar Ataxia. Dr. Opal is board certified in American Board Of Psychiatry And Neurology - Neurology (Certified).
Swedish Neuroscience Specialists - Movement Disorders
Movement disorders are most effectively treated by adopting a multidisciplinary approach and closely collaborating with the patient, the family and other caregivers. Every member of the clinical team is invaluable in delivering high-quality, high-value care to patients and their families. Dr. Khemani is the Medical Director of the Movement Disorders Program within the Swedish Neuroscience Institute. Dr. Khemani is rated as an Advanced provider by MediFind in the treatment of Spinocerebellar Ataxia Type 1. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Movement Disorders, Parkinson's Disease, Essential Tremor, Deep Brain Stimulation, and Orchiectomy. Dr. Khemani is board certified in American Board Of Psychiatry And Neurology. Dr. Khemani is currently accepting new patients.
Regents Of The Univ. Of Michigan
Vikram Shakkottai is a Neurologist practicing medicine in Ann Arbor, Michigan. Dr. Shakkottai is rated as an Elite provider by MediFind in the treatment of Spinocerebellar Ataxia Type 1. He is also highly rated in 72 other conditions, according to our data. His clinical expertise encompasses Olivopontocerebellar Atrophy, Spinocerebellar Ataxia, Spinocerebellar Ataxia Type 1, and Drug Induced Dyskinesia.
Published Date: February 01, 2011
Published By: National Institutes of Health