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Sandhoff Disease

Sandhoff Disease: Introduction

Sandhoff Disease: Sandhoff disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by a ... more about Sandhoff Disease.

Sandhoff Disease: An inherited biochemical disorder involving a deficiency of the enzyme called hexosaminidase A&B which results in the harmful accumulation of chemicals in the central nervous system and other body tissues. More detailed information about the symptoms, causes, and treatments of Sandhoff Disease is available below.

Symptoms of Sandhoff Disease

Treatments for Sandhoff Disease

Home Diagnostic Testing

Home medical testing related to Sandhoff Disease:

Wrongly Diagnosed with Sandhoff Disease?

Sandhoff Disease: Related Patient Stories

Sandhoff Disease: Complications

Review possible medical complications related to Sandhoff Disease:

Causes of Sandhoff Disease

Read more about causes of Sandhoff Disease.

Disease Topics Related To Sandhoff Disease

Research the causes of these diseases that are similar to, or related to, Sandhoff Disease:

Sandhoff Disease: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Sandhoff Disease

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See symptoms of Vitamin more »

Sandhoff Disease: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Evidence Based Medicine Research for Sandhoff Disease

Medical research articles related to Sandhoff Disease include:

Click here to find more evidence-based articles on the TRIP Database

Prognosis for Sandhoff Disease

Prognosis for Sandhoff Disease: Poor. Commonly death by age 3.

Research about Sandhoff Disease

Visit our research pages for current research about Sandhoff Disease treatments.

Clinical Trials for Sandhoff Disease

The US based website lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on for Sandhoff Disease include:

Statistics for Sandhoff Disease

Sandhoff Disease: Broader Related Topics

Sandhoff Disease Message Boards

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User Interactive Forums

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Article Excerpts about Sandhoff Disease

Sandhoff disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzyme hexosaminidase which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. Although Sandhoff disease is a severe form of Tay-Sachs disease—which is prevalent primarily in people of European Jewish descent—it is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. (Source: excerpt from NINDS Sandhoff Disease Information Page: NINDS)

Definitions of Sandhoff Disease:

An autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A & B (see BETA-N-ACETYLHEXOSAMINIDASE) which leads to an accumulation of GM2 ganglioside and sphingolipid globoside in neurons and other organs. Clinical manifestations resemble TAY-SACHS DISEASE, but the disease is not limited to Askenazi Jews and may feature hepatosplenomegaly. The infantile form presents in the first 4 months of life with psychomotor delay, hypotonia followed by spasticity, and cherry red spots in the macula. Rare juvenile and adult forms have been reported. (From Menkes, Textbook of Child Neurology, 5th ed, p92) - (Source - Diseases Database)

Sandhoff Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Sandhoff Disease, or a subtype of Sandhoff Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Sandhoff Disease as a "rare disease".
Source - Orphanet


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