Living with Fucosidosis
An inherited condition affecting many parts of the body, especially the brain, with learning and movement skills that worsen over time.
Understanding Fucosidosis
Symptoms vary. People have intellectual disability that worsens with age, and over time often lose skills such as sitting, walking, or talking. Other signs can include slow growth, bone differences (dysostosis multiplex), muscle stiffness, coarse facial features, small dark red skin spots (angiokeratomas), and frequent respiratory infections. Many researchers now view it as a spectrum of severity.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability that worsens
- Loss of learned skills
- Slow growth
- Muscle stiffness (spasticity)
- Coarse facial features
- Enlarged liver and hearing loss
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in FUCA1 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
The International Advocates for Glycoprotein Storage Diseases (ISMRD) and Children's Cardiomyopathy Foundation 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); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: The International Advocates for Glycoprotein Storage Diseases (ISMRD), Children's Cardiomyopathy 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 The International Advocates for Glycoprotein Storage Diseases (ISMRD) 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
Changes in the FUCA1 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: a-fucosidase deficiency; alpha fucosidase deficiency; alpha-l-fucosidase deficiency; fucosidase deficiency
Patient organizations
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Fucosidosis · United States
- International Society for Mannosidosis and Related DiseasesFucosidosis · Children's Cardiomyopathy Foundation
You are more than your diagnosis
Perspectives from people navigating life with Fucosidosis.
Explore research for Fucosidosis
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- Recruiting studies from ClinicalTrials.gov
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- 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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