Learn About Sandhoff Disease

What is the definition of Sandhoff Disease?

Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord (central nervous system). This condition is classified into three major types based on the age at which signs and symptoms first appear: infantile, juvenile, and adult.

Save information for later
Sign Up
What are the causes of Sandhoff Disease?

Sandhoff disease is caused by variants (also known as mutations) in the HEXB gene. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, these two enzymes break down fatty substances, complex sugars, and molecules that are linked to sugars. In particular, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside.

How prevalent is Sandhoff Disease?

Sandhoff disease is a rare disorder; its frequency varies among populations. This condition appears to be more common in the Creole population of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people from Lebanon.

Is Sandhoff Disease an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Who are the top Sandhoff Disease Local Doctors?
Elite
Highly rated in
4
conditions

Division Of Medical Genetics

Department Of Pediatrics, Kingston Health Sciences Centre And Queen's University 
Kingston, ON, CA 

Jagdeep Walia is in Kingston, Canada. Walia is rated as an Elite expert by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 4 other conditions, according to our data. His top areas of expertise are Tay-Sachs Disease, Sandhoff Disease, Gangliosidosis, and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

Distinguished
Highly rated in
3
conditions

University Of Tsukuba

Department Of Emergency And Critical Care Medicine, Faculty Of Medicine 
Tsukuba, JP 30585

Yasuhiro Ogawa is in Tsukuba, Japan. Ogawa is rated as a Distinguished expert by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Tay-Sachs Disease, Sandhoff Disease, Gangliosidosis, and Epididymitis.

 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
Highly rated in
4
conditions

University Of Cambridge

Department Of Medicine 
Cambridge, ENG, GB 

Maria Gonzalez-Cachon is in Cambridge, United Kingdom. Gonzalez-Cachon is rated as a Distinguished expert by MediFind in the treatment of Sandhoff Disease. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Sandhoff Disease, Tay-Sachs Disease, Gangliosidosis, and Krabbe Disease.

What are the latest Sandhoff Disease Clinical Trials?
Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases
Match to trials
Find the right clinical trials for you in under a minute
Get started
Phase 1/2, Open-Label Clinical Study to Evaluate the Safety and Efficacy of Intrathecal TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis
Who are the sources who wrote this article ?

Published Date:updated Last, December

Published By: National Institutes of Health

What are the Latest Advances for Sandhoff Disease?
Atypical presentation of late-onset Sandhoff disease: a case report.
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
Tired of the same old research?
Check Latest Advances
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.