Ocular motor apraxia, Cogan type

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Oculomotor apraxia, Cogan type

Ocular motor apraxia Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties or in some cases cerebral malformations. Both sporadic and familial forms have been described with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2 near to the NPHP1 gene involved in nephronophthisis may be associated with ocular motor apraxia Cogan type.

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
Ocular motor apraxia, Cogan type?

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

Clinical Trials

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