Genetic condition awaiting consideration - Spinocerebellar ataxia type 2 (SCA2)
Spinocerebellar ataxia Type 2 (SCA2) is a slowly progressing inherited condition affecting movement and balance. An alteration (or mutation) in the ATXN2 gene causes the condition. There can be a great variability in the age at which symptoms of SCA2 begin even within the same family, but the average age of onset is in the 30s.
Early symptoms of the condition include problems with balance (ataxia) and coordination which affect mobility. People with SCA2 also have difficulty with speech and swallowing which leads to communication and eating problems. Many people have slowed eye movements so that they turn their head to compensate for the slowed eye response. As the disease progresses, people with SCA2 may develop loss of sensation and weakness in the limbs, muscle wasting, uncontrolled muscle tensing (dystonia), and involuntary jerking movements (chorea) or tremor. Some people with SCA2 develop dementia or have isolated problems with short term memory and problem solving. There is no curative treatment for SCA2.
Supportive treatment can include physiotherapy and speech and language therapy. Some medications can be helpful to manage movement disorders such as tremor.