This is a rare genetic disorder described in the 20th century by Georges Marinesco, a Rumanian neurologist, and Karl Gustaf Torsten Sjogren, a Swedish psychiatrist.
The major clinical features of this syndrome are congenital cataracts, unsteadiness (ataxia), muscle weakness and delayed psychomotor development. The cataracts are not necessarily present at birth but are often progressive. Muscle weakness may be evident as ‘floppy babies’ at birth. It often progresses for some years and then stabilizes. Slurred speech is common. The unsteadiness is due to dysfunction of the cerebellum, a substructure of the posterior brain. Other features are mental retardation, short stature, dysfunction of the gonads, and skeletal changes including scoliosis and deformities of the feet.
This is an autosomal recessive disorder caused by mutations in a gene contributed by both normal carrier parents.
The diagnosis is based on the combination of clinical findings described here. Many patients become disabled by the muscle weakness and unsteadiness. Cataract surgery can restore vision and orthopedic surgery can be beneficial in selected patients. There is no evidence that lifespan is shortened.