GM2 gangliosidoses

(Redirected from GM2-gangliosidoses)
Jump to navigation Jump to search
GM2 gangliosidoses
ICD-10 E75.0
ICD-9 330.1
OMIM 272800 268800, 272750
DiseasesDB 12916 Template:DiseasesDB2, Template:DiseasesDB2
MeSH D020143

WikiDoc Resources for GM2 gangliosidoses

Articles

Most recent articles on GM2 gangliosidoses

Most cited articles on GM2 gangliosidoses

Review articles on GM2 gangliosidoses

Articles on GM2 gangliosidoses in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on GM2 gangliosidoses

Images of GM2 gangliosidoses

Photos of GM2 gangliosidoses

Podcasts & MP3s on GM2 gangliosidoses

Videos on GM2 gangliosidoses

Evidence Based Medicine

Cochrane Collaboration on GM2 gangliosidoses

Bandolier on GM2 gangliosidoses

TRIP on GM2 gangliosidoses

Clinical Trials

Ongoing Trials on GM2 gangliosidoses at Clinical Trials.gov

Trial results on GM2 gangliosidoses

Clinical Trials on GM2 gangliosidoses at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on GM2 gangliosidoses

NICE Guidance on GM2 gangliosidoses

NHS PRODIGY Guidance

FDA on GM2 gangliosidoses

CDC on GM2 gangliosidoses

Books

Books on GM2 gangliosidoses

News

GM2 gangliosidoses in the news

Be alerted to news on GM2 gangliosidoses

News trends on GM2 gangliosidoses

Commentary

Blogs on GM2 gangliosidoses

Definitions

Definitions of GM2 gangliosidoses

Patient Resources / Community

Patient resources on GM2 gangliosidoses

Discussion groups on GM2 gangliosidoses

Patient Handouts on GM2 gangliosidoses

Directions to Hospitals Treating GM2 gangliosidoses

Risk calculators and risk factors for GM2 gangliosidoses

Healthcare Provider Resources

Symptoms of GM2 gangliosidoses

Causes & Risk Factors for GM2 gangliosidoses

Diagnostic studies for GM2 gangliosidoses

Treatment of GM2 gangliosidoses

Continuing Medical Education (CME)

CME Programs on GM2 gangliosidoses

International

GM2 gangliosidoses en Espanol

GM2 gangliosidoses en Francais

Business

GM2 gangliosidoses in the Marketplace

Patents on GM2 gangliosidoses

Experimental / Informatics

List of terms related to GM2 gangliosidoses

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Template:Editor help

The GM2 gangliosidoses cause the body to store excess acidic fatty materials in tissues and cells, most notably in nerve cells. These disorders result from a deficiency of the enzyme beta-hexosaminidase. The GM2 disorders include:

Tay-Sachs disease

Tay-Sachs disease (also known as GM2 variant B). Tay-Sachs and its variant forms are caused by a deficiency in the enzyme beta-hexosaminidase A. The incidence is particularly high among Eastern European and Ashkenazi Jewish populations, as well as certain French Canadians and Louisianan Cajuns. Affected children appear to develop normally for the first few months of life. Symptoms begin by 6 months of age and include progressive loss of mental ability, dementia, decreased eye contact, increased startle reflex to noise, progressive loss of hearing leading to deafness, difficulty in swallowing, blindness, cherry-red spots in the retinas, and some paralysis. Seizures may begin in the child’s second year. Children may eventually need a feeding tube and they often die by age 4 from recurring infection. No specific treatment is available. Anticonvulsant medications may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. A much rarer form of the disorder, which occurs in patients in their twenties and early thirties, is characterized by unsteadiness of gait and progressive neurological deterioration.

Sandhoff disease

Sandhoff disease (variant AB). This is a severe form of Tay-Sachs disease. Onset usually occurs at the age of 6 months and is not limited to any ethnic group. Neurological symptoms may include progressive deterioration of the central nervous system, motor weakness, early blindness, marked startle response to sound, spasticity, myoclonus (shock-like contractions of a muscle), seizures, macrocephaly (an abnormally enlarged head), and cherry-red spots in the eye. Other symptoms may include frequent respiratory infections, murmurs of the heart, doll-like facial features, and an enlarged liver and spleen. There is no specific treatment for Sandhoff disease. As with Tay-Sachs disease, supportive treatment includes keeping the airway open and proper nutrition and hydration. Anticonvulsant medications may initially control seizures. Children generally die by age 3 from respiratory infections.

Template:Endocrine, nutritional and metabolic pathology

Template:WikiDoc Sources