Bertini syndrome. Ataxia-myoclonic encephalopathy-macular degeneration-recurrent infections syndrome.
Incidence
The syndrome is familial and is transmitted as an X-linked trait and linked to the short arm of chromosome X (Xp22.33-pter).
Clinical Characteristics
Severe congenital ataxia, generalized hypotonia, psychomotor retardation, and recurrent bronchopulmonary infections with later development of myoclonic encephalopathy and macular degeneration.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis.