X-linked spinocerebellar ataxia type 3

X-linked spinocerebellar ataxia type 3 is a rare form of spinocerebellar degeneration. It begins in infancy and is marked by low muscle tone (hypotonia), difficulty with balance and coordination (ataxia), hearing loss (sensorineural deafness), and delays in development. In addition, affected individuals may have crossed eyes (esotropia) and damage to the optic nerve (optic atrophy). This condition has been seen in one family with at least six affected males from five different sibships, linked by carrier females. It is passed down in an X-linked recessive manner, meaning that the gene involved is located on the X chromosome.

People with this condition often show a combination of symptoms early in life. These symptoms include low muscle tone, problems with movement and balance, hearing loss, delayed development, crossed eyes (esotropia), and damage to the optic nerve leading to optic atrophy.

X-linked spinocerebellar ataxia type 3 is caused by genetic changes that affect the SCAX3 gene. It is inherited in an X-linked recessive pattern, meaning that the condition is usually passed from carrier females to affected males.

Information about treatment is currently limited for this condition.

This condition follows a progressive course and is severe. It leads to significant neurological challenges and, sadly, death in childhood.

Information about research is currently limited for this condition.