Marinescu-Sjögren's syndrome

Marinesco-Sjögren syndrome (MSS) is an autosomal recessive cerebellar ataxia. The disease manifests in infancy. The main symptoms are cerebellar ataxia, delayed psychomotor development and congenital cataracts.

Areflexia can be triggered by a demyelinating peripheral neuropathy. Some patients have rhabdomyolysis crises and hypergonadotropic hypergonadism.