Friedreich's ataxia associated with congenital ocular motor apraxia

ABSTRACT

The time course of secondary congenital ocular motor apraxia (COMA), followed-up for 20 years in a patient with Friedreich's ataxia, is reported. Primary COMA, COMA without accompanied ataxia, has been reported to be non-progressive, and it usually improves in the course of time. But in the present case, although the overshooting head movements were less prominent, new findings: small jerking eye movements, impairment of vertical pursuit movements, absence of horizontal optokinetic nystagmus (OKN), and horizontal lateral gaze nystagmus, were added. Progressive degeneration of the cerebellar and brainstem related to Friedreich's ataxia may have contributed to modifying the COMA. Cases of COMA associated with spinocerebellar degeneration may not have a benign evolution.

Key words:

• congenital ocular motor apraxia
• Friedreich's ataxia
• follow-up study