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Medical Disclaimer
The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.
Fucosidosis
Overview
Fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking, and the skills they do acquire often deteriorate over time. In severe cases, symptoms appear in infancy; in milder cases, symptoms begin at age 1 or 2. Fucosidosis is caused by mutations in the FUCA1 gene. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The only currently available treatment is bone marrow transplant, the results of which have been variable and need further study.
Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.
Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.
Trusted Medical Sites
Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Support Organizations
Support organizations can provide help and guidance in areas such as peer matching, education and training, and therapy and counseling.
Disease Resources
Resources can help guide your quest for factual and reliable information.
The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria.
This 100-page handbook helps answer many questions for children with Progeria about how to optimize quality of life through daily care and medical treatment. Contains basic health facts,daily care recommendations and extensive treatment guidelines.
AAMDSIF Online Academy (webinars)
200+ FREE webinars for patients, families and caregivers about rare blood cancers and bone marrow failure diseases.
Educational Resources
Publications, links to patient conferences and webinars
Disease Information
Descriptions of various rare blood cancers and bone marrow failure diseases.
USH Talks - Video Presentations on Usher syndrome
This video podcast delivers the latest in research developments and community stories directly to you.