Living with Mucopolysaccharidosis
A group of inherited conditions in which the body cannot break down certain long sugar chains, causing health problems that progress over time.
Understanding Mucopolysaccharidosis
These sugars build up in cells, blood, and connective tissue and can lead to a variety of health problems. Signs and severity vary a lot by form. In general, most people appear healthy at birth and have a period of normal development, followed by a decline in physical and/or mental function. As it progresses, it may affect appearance, physical abilities, organ function, and, in most cases, thinking skills.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America, World Craniofacial Foundation
- 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 Cure Sanfilippo 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
The genetic cause varies by form. Most cases are autosomal recessive, which means a child inherits a changed copy of the gene from each parent. One form (Type II) is X-linked.
Also known as: mps - mucopolysaccharidosis; mucopolysaccharidoses
Patient organizations
- Cure Sanfilippo FoundationMucopolysaccharidosis · United States
- Little People of AmericaMucopolysaccharidosis · United States
- Ben's Dream Sanfilippo Research FoundationMucopolysaccharidosis · Jonah's Just Begun - Foundation to Cure Sanfilippo, Inc
- National MPS SocietyMucopolysaccharidosis · United States
- Project AliveMucopolysaccharidosis · United States
- The Ryan FoundationMucopolysaccharidosis · The Sanfilippo Children's Research Foundation
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Mucopolysaccharidosis.
Explore research for Mucopolysaccharidosis
Explore actively recruiting Mucopolysaccharidosis studies with HealthSpark.
Find actively recruiting studies for Mucopolysaccharidosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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