X-linked spinocerebellar ataxia type 4

X-linked spinocerebellar ataxia type 4 is a rare condition that mainly affects movement and memory. It is characterized by difficulties with coordination (ataxia) and signs of pyramidal tract involvement, which can affect muscle control. The condition was observed over three generations in one large family, starting with early childhood symptoms and progressing into adult-onset dementia.

People with this condition may experience delayed walking and tremors in early childhood. As the condition progresses, they can develop signs related to the pyramidal tract and later in life, memory problems and gradual dementia. These symptoms typically worsen over time.

X-linked spinocerebellar ataxia type 4 is inherited in an X-linked pattern, which means the genetic change is on the X chromosome. However, the exact gene causing this condition has not yet been identified.

Information about treatment is currently limited for this condition.

The condition tends to progress over time, with early childhood symptoms eventually leading to significant neurological issues in adulthood. Most affected individuals experience worsening symptoms and the condition is usually fatal during the sixth decade of life.

Current research is focused on understanding the genetic factors and disease progression of this condition. With the causative gene still unidentified, further studies are needed to better understand and eventually manage the condition.