Multiple sulfatase deficiency

Disease Overview

Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton.[10730][10731] The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with symptoms developing soon after birth. The late-infantile type is the most common form and usually presents as progressive loss of mental abilities and movement after a period of normal development. The juvenile type is rare, with a slow regression of psychomotor development in mid to late childhood. Life expectancy is shortened in all types.[10730] Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. It is inherited in an autosomal recessive pattern.[10730][10731] There is no cure for multiple sulfatase deficiency. Treatment includes physical therapy and supportive services.[10731]  

Synonyms

• MSD
• Juvenile sulfatidosis
• Mucosulfatidosis
• Sulfatidosis juvenile, Austin type