Conditions / Syndrome
Marinesco-Sjogren syndrome
info · Syndrome
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
Signs and symptoms
- Myopathy
- Cerebellar atrophy
- Hypotonia
- Ataxia
- Developmental cataract
- Cerebellar cortical atrophy
- Global developmental delay
- Hypergonadotropic hypogonadism
- Strabismus
- Elevated circulating creatine kinase activity
Also known as: Garland-Moorhouse syndrome; Marinesco-Garland syndrome; Oligophrenic cerebellolenticular degeneration; hereditary oligophrenic cerebello-lental degeneration