Multiple Sulfatase Deficiency (MSD) is a condition that affects the entire body. There are many mutations of MSD and there are so few cases that symptoms can vary widely. The description below is what we have gathered from our personal research, doctor’s input and families across the world. MSD is a storage disease where the cells are not processing waste properly and it builds up over time causing the cells to break down. Children are typically okay at birth but as the molecules build up many areas in the body began to break down. The brain begins to gather white matter, which causes developmental delay, motor skills and communication loss. Some children talk but than lose their verbal skills, some never speak. The molecules build up in the eyes, which cause blindness. In the throat which cause slow swallowing and combined with the neurological issues which leads to most children have to get a feeding tube.
There are many ENT issues and often times this is where symptoms first occur. Typically children have ear tubes and other surgeries. Frequent congestion and infections are typical. If swallowing slows, aspiration of liquids can also cause phenomena.
The skeleton is effected by the storage molecules building up causing deformation of the spine as the body grows. Curvature of the spine (scoliosis) and joint stiffness often occur.
Balance issues often start early which may be caused by the combination of central nervous system, brain and bone issues. Children usually stop walking and crawling over time.
The heart can also collect storage material which can cause heart conditions.
There is typically severe dry skin on the back, stomach and scalp. Features have been described as course. Sometimes you can see build up around the eyes and the eyebrows and eyelashes are usually long.
The condition is fatal, most children do not live past 10 years of age.
Here is more information:
The Science of MSD
Multiple Sulfatase Deficiency (MSD) is a rare, inherited metabolic disorder caused by mutations in the SUMF1 gene, which encodes the Formylglycine-Generating Enzyme (FGE).
This enzyme is required for the posttranslational modification of every cellular sulfatase. Defective FGE function results in absent sulfatase activities, many of them within the lysosomes, and build-up of sphingolipids mucopolysaccharides.
MSD is a fatal condition combining symptoms of single sulfatase deficiencies. Symptoms include developmental delay, neurodegeneration resulting in a loss of motor and communication skills, spasticity and epilepsy. Additional symptoms like hepatosplenomegalie, dysostosis multiplex, hydrocephalus, inguinal hernias, and ichthyosis occur in patients with MSD. Onset and progress of symptoms in MSD allow for the differentiation of a neonatal very severe form of the disease, a late infantile severe and mild form and a juvenile form of MSD.