Living with Multiple sulfatase deficiency
A rare inherited condition that mainly affects the brain, skin, and bones, with three types that start at different ages.
Understanding Multiple sulfatase deficiency
There are three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe and starts soon after birth. Features can include loss of the brain's protective coating (leukodystrophy), dry scaly skin (ichthyosis), curved spine, joint stiffness, and coarse facial features. The late-infantile type is the most common. It often starts with normal development followed by a loss of skills.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Loss of skills (developmental regression)
- Dry, scaly skin (ichthyosis)
- Coarse facial features
- Joint stiffness
- Enlarged liver and spleen
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in SUMF1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation and Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Epilepsy Foundation, Foundation for Ichthyosis and Related Skin Types
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United MSD Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the SUMF1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: juvenile sulfatidosis austin type; juvenile sulfatidosis, austin type; msd; mucosulfatidosis; multiple sulfatase deficiency disease; sulfatidosis, juvenile, austin type
Patient organizations
- United MSD FoundationMultiple sulfatase deficiency · United States
- Epilepsy FoundationEpilepsy · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple sulfatase deficiency.
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