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This section provides resources to help you learn about medical research and ways to get involved.If you can’t find a specialist in your local area, try contacting national or international specialists. This section provides resources to help you learn about medical research and ways to get involved.Related diseases are conditions that have similar signs and symptoms. Pedigree Speech Articulation … At this time, there are at least 29 different gene mutations that have been found. Dysphagia and choking are common. 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). Spinocerebellar ataxia 5 (SCA5) is one of the many spinocerebellar ataxias, … If you have questions about getting a diagnosis, you should contact a healthcare professional.If you can’t find a specialist in your local area, try contacting national or international specialists. The first ataxia gene was identified in 1993 and called "Spinocerebellar ataxia type 1" (SCA1); later genes were called SCA2, SCA3, etc. These resources can help families navigate various aspects of living with a rare disease. Unlike other types, SCA 6 is not fatal. The most common subtypes are spinocerebellar ataxia 1, 2, 3, 6, and 7, all of which are nucleotide repeat expansion disorders. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted.Try our interactive tool for help finding information, services, experts, financial aid, and more!Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311Research helps us better understand diseases and can lead to advances in diagnosis and treatment. SCA6, originally classified as such by Zhuchenko et al. Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. They can direct you to research, resources, and services. Inclusion on this list is not an endorsement by GARD.These resources provide more information about this condition or associated symptoms. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. OT = occupational therapist/therapy; PT = physical therapist/therapyRecommended Evaluations Following Initial Diagnosis in Individuals with Spinocerebellar Ataxia Type 6Basal ganglia signs, such as dystonia and blepharospasm, are noted in up to 25% of individuals.In a family with an established diagnosis of SCA6, it is appropriate to consider testing of symptomatic individuals regardless of age.Allelic Autosomal Dominant Disorders to Consider in the Differential Diagnosis of Spinocerebellar Ataxia Type 6Features of Spinocerebellar Ataxia Type 6Spinocerebellar Ataxia Type 6: Genes and DatabasesMolecular Genetic Testing Used in Spinocerebellar Ataxia Type 6Although the disease rarely manifests during years of fertility, measures to support imbalance should be enhanced in symptomatic pregnant women.Formal diagnostic criteria for spinocerebellar ataxia type 6 (SCA6) have not been established.The growing interest in cannabidiol (CBD) requires further empiric experience or clinical trials.Adam MP, Ardinger HH, Pagon RA, et al., editors. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. Questions sent to GARD may be posted here if the information could be helpful to others. We describe a rare occurrence of familial MSA that proved to be SCA6 upon genetic analysis. Please note that the table may not include all the possible conditions related to this disease.Making a diagnosis for a genetic or rare disease can often be challenging. Spinocerebellar ataxia type 6 (SCA6) is a neurological condition characterized … The following resources provide information relating to diagnosis and testing for this condition. Additionally, a larger number of repeats is usually associated with an earlier onset of signs and symptoms. Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. In most cases, an affected person has one parent with the condition.Approximately 100 individuals with SCA36 have been reported in the scientific literature.