How do I find a center of excellence in cerebrotendinous xanthomatosis?
One of the best ways to find a treatment center or physician with experience in treating cerebrotendinous xanthomatosis is to contact a support group. The United Leukodystrophy Foundation is a support group that provides such information about disorders classified as leukodystrophy including cerebrotendinous xanthomatosis. The Council for Bile Acid Deficiency Diseases is a nonprofit association of individuals, healthcare professionals and commercial entities. It works to increase public awareness of bile acid deficiency diseases by providing educational materials and forums, and to help facilitate access to diagnostic testing and new treatments.
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What specialist doctors should I see with cerebrotendinous xanthomatosis?
People with cerebrotendinous xanthomatosis require periodic checkups or exams to monitor their health. They will be checked to see how well treatment working, whether the disease has progressed or gotten better, or will be checked for the possible development of new symptoms.
Rare diseases that affect multiple organ systems can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a specialist for neurological disorders in children (pediatric neurologist) who will monitor brain function and health; an eye doctor (ophthalmologist) who can periodically check for cataracts; a psychiatrist to monitor and treat emotional or behavior problems; a genetic counselor who can help people understand the disease and the implications for the person and other family members, a metabolic disease specialist, a specialist in digestive disorders (gastroenterologist), physiotherapists, occupational therapists, and nutritionists.
- Stewart S, Peers K. Rare diseases 1: what do you need to know? Nursing Times. 2013; 45:12-14.
- Federico A, Dotti MT, Gahl W. Cerebrotendinous Xanthomatosis. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1409/ Updated August 1, 2013. Accessed April 10, 2016.