General Neurology
Tibial nerve injuries
Jul. 06, 2024
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Toll Free (U.S. + Canada): 800-452-2400
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Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down lipids. Lipids are fatty substances like oils, waxes, steroids, and other compounds that are important parts of the membranes found within and between cells and the myelin layer that coats and protects the nerves.
Abnormal buildup of lipids can cause permanent damage in the cells and tissues in the brain and nervous systems, particularly in nerve cells, and elsewhere in the body (including the liver and spleen). There are two distinct groups of the gangliosidoses that can affect males and females equally.
The GM1 gangliosidoses are caused by a deficiency of the enzyme beta-galactosidase and has three clinical subtypes:
The GM2 gangliosidoses include Tay-Sachs disease and its more severe form, Sandhoff disease, both of which result from a deficiency of the enzyme beta-hexosaminidase.
No specific treatment exists for the gangliosidoses. Anticonvulsants may initially control seizures. Other supportive treatment includes proper nutrition, hydration, and keeping the airway open. Restricting one's diet does not prevent lipid buildup in cells and tissues.
How can I or my loved one help improve care for people with gangliodisoses?
Consider participating in a clinical trial so clinicians and scientists can learn more about gangliosidoses and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with gangliosidoses at Clinicaltrials.gov.
Where can I find more information about gangliodisoses?
Information on gangliosidosis may be available from the following resources:
Genetics and Rare Diseases (GARD) Information Center
Hide and Seek Foundation for Lysosomal Storage Disease Research
Phone: 877-621-1122
National Organization for Rare Disorders (NORD)
Phone: 203-744-0100
National Tay-Sachs and Allied Diseases Association
Phone: 800-906-8723
Content source: https://www.ninds.nih.gov/health-information/disorders/gangliosidoses Accessed June 23, 2023.
The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.
MedLink®, LLC
3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125