Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1 (pronounced: spi-no-cer-e-bel-lar a-tax-ia type one), often abbreviated as SCA1, is a genetic disorder characterized by progressive problems with movement.
Etymology
The term "spinocerebellar" is derived from the words "spino", referring to the spinal cord, and "cerebellar", referring to the cerebellum, which is the part of the brain that controls movement. "Ataxia" is a term used to describe a group of disorders that affect coordination, balance and speech. The "type 1" designation indicates that this is the first variant of the disease to be identified.
Symptoms
People with SCA1 often have problems with balance and coordination (ataxia), speech difficulties (dysarthria), and trouble swallowing (dysphagia). Other symptoms can include muscle stiffness (spasticity), weakness in the muscles that control eye movement (ophthalmoplegia), and problems with sensation and reflexes.
Causes
SCA1 is caused by a mutation in the ATXN1 gene. This gene provides instructions for making a protein that is involved in regulating other genes. The mutation leads to the production of an abnormally long version of the ATXN1 protein, which is thought to be toxic to certain nerve cells in the brain and spinal cord.
Diagnosis
Diagnosis of SCA1 is based on the presence of characteristic neurological symptoms, a family history of the disorder, and confirmed by genetic testing.
Treatment
There is currently no cure for SCA1. Treatment is supportive and based on the symptoms in each individual. This can include physical therapy, speech therapy, and assistive devices to help with mobility and communication.
See also
External links
- Medical encyclopedia article on Spinocerebellar ataxia type 1
- Wikipedia's article - Spinocerebellar ataxia type 1
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