Marinesco-Sjögren syndrome

Marinesco-Sjogren syndrome is a rare autosomal recessive disorder that causes cerebellar ataxia affecting balance and coordination, intellectual disability, congenital cataracts that appear in early childhood, progressive muscle weakness, and distinctive hair and nail abnormalities, along with small stature, speech difficulties, skeletal problems and hormonal issues. It can be associated with mutations in the SIL1 gene on chromosome 5q31.2, which encodes a molecular chaperone protein in the endoplasmic reticulum. It is unrelated to the autoimmune disorder Sjogren syndrome, which affects the salivary and lacrimal glands; despite the shared name, Marinesco-Sjogren syndrome is a genetic disorder of the nervous system, muscles, eyes and connective tissue, and although muscle weakness worsens over time, life expectancy for those with the condition remains close to normal.