Brenna Bentley , MS, GCG, genetic counselor and patient research coordinator for the United MSD Foundation lists some of the more common symptoms observed in children with multiple sulfatase deficiency (MSD).
MSD is a rare genetic disease due to mutations in the SUMF1 gene. SUMF1 is involved in the development of formylglycine-generating enzyme (FGE) and absence of that enzyme leads to the buildup of glycosaminoglycans in cells and organs.
MSD is a progressive, neurodegenerative condition. There are different subtypes of MSD: neonatal, late-infantile, and juvenile. The neonatal form is the most severe and can present in utero or at birth. Consequently these children decline very rapidly and often die during the first two years of life. Late-infantile is the most common form. These children have normal cognitive development in the beginning of life, but gradually begin to regress and lose skills. Juvenile MSD is the rarest type. They do not show signs or symptoms until middle to late childhood and generally have a slower loss of skills.
Early signs and symptoms in the late-infantile and juvenile forms may include:
- Course facial features
- Developmental delay or regression
- Epilepsy/seizures
- Ichthyosis
- Gastrointestinal problems
- Recurrent ear and sinus infections
- Loss of motor skills, muscle tone
- Autistic features
- Hepatosplenomegaly
- Skeletal dysplasia
- hydrocephalus
However as the disease progresses, these symptoms will worsen and the child will eventually need constant full-time care. There are currently no treatments for this rare disease.
As noted by Ms. Bentley, a child with MSD is often diagnosed by a pediatric neurologist via enzyme and genetic testing.
The United MSD foundation is a patient advocacy group dedicated to pursuing treatment and advocacy for MSD.
To learn more about MSD and other lysosomal disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/