X-linked non progressive cerebellar ataxia

X-linked non progressive cerebellar ataxia is a rare hereditary condition that affects balance and coordination. People with this condition experience delayed early motor development and severe weakness when they are newborns, known as neonatal hypotonia. The condition presents with non-progressive ataxia and slow eye movements. Importantly, cognitive abilities remain normal and there are no signs of progressive damage to the brain's pyramidal system. The condition is noticeable early in life, with motor difficulties that do not worsen over time. Brain imaging typically shows global cerebellar atrophy while other parts of the nervous system appear normal.

Common symptoms include delayed motor development, severe neonatal hypotonia, and ongoing ataxia, which refers to difficulties with balance and coordination. People may also have slow eye movements, intention tremor (shaking that occurs during purposeful movement), mild dysphagia (difficulty swallowing), and dysarthria (slurred speech).

X-linked non progressive cerebellar ataxia is caused by genetic changes that affect the SCAX5 gene. It is inherited in an X-linked pattern, meaning that changes in this gene can lead to the motor difficulties observed in the condition by impacting the development of the cerebellum.

Information about treatment is currently limited for this condition.

The condition is non-progressive, meaning that while the symptoms are present from an early stage, they do not worsen over time. People with this condition usually maintain normal cognitive abilities, which contributes to a stable outlook over the long term.

Information about research is currently limited for this condition.