X-linked non progressive cerebellar ataxia

Get in touch with RARE Concierge.

Contact RARE Concierge

X-linked non progressive cerebellar ataxia

X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development severe neonatal hypotonia non-progressive ataxia and slow eye movements presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor mild dysphagia and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

Newly diagnosed with
X-linked non progressive cerebellar ataxia?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.