What is Sandhoff Disease?
What is 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.
- 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
Sandhoff Disease: Introduction
Types of Sandhoff Disease:
Broader types of Sandhoff Disease:
How many people get Sandhoff Disease?
Prevalance of Sandhoff Disease: rare
Who gets Sandhoff Disease?
Patient Profile for Sandhoff Disease: Infants. Onset usually at 6 months.
Race Profile for Sandhoff Disease: Not more common in Jewish families like Tay-Sachs disease.
How serious is Sandhoff Disease?
Prognosis of Sandhoff Disease: Poor. Commonly death by age 3.
Complications of Sandhoff Disease:
see complications of Sandhoff Disease
Prognosis of Sandhoff Disease:
The
prognosis for individuals with Sandhoff disease is poor. Death usually
occurs by age 3 and is generally caused by respiratory infections.
(Source: excerpt from NINDS Sandhoff Disease Information Page: NINDS)
What causes Sandhoff Disease?
Causes of Sandhoff Disease: see causes of Sandhoff Disease
Cause of Sandhoff Disease: Lipid storage disorder due to deficiency of the enzyme hexosaminidase
What are the symptoms of Sandhoff Disease?
Symptoms of Sandhoff Disease:
see symptoms of Sandhoff Disease
Complications of Sandhoff Disease:
see complications of Sandhoff Disease
Can anyone else get Sandhoff Disease?
Contagion of genetic conditions:
generally not; see details in contagion of genetic diseases.
Inheritance:
see inheritance of Sandhoff Disease
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
Sandhoff Disease: Testing
Diagnostic testing: see tests for Sandhoff Disease.
Misdiagnosis: see misdiagnosis and Sandhoff Disease.
How is it treated?
Treatments for Sandhoff Disease:
see treatments for Sandhoff Disease
Research for Sandhoff Disease:
see research for Sandhoff Disease
Name and Aliases of Sandhoff Disease
Main name of condition: Sandhoff Disease
Class of Condition for Sandhoff Disease: genetic
Other names or spellings for Sandhoff Disease:
GM2 gangliosidosis, 0 variant, Hexosaminidases A and B deficiency, Beta-hexosaminidase-beta-subunit deficiency, GM2 gangliosidosis, type 2, Hexosaminidase A and B deficiency Disease, Sandhoff-Jatzkewitz-Pilz disease, Total hexosaminidase deficiency
GM2 gangliosidosis type A0BO, Lysosomal hexosaminidases A and B deficiency, Sandhoff-Jatzkewitz-Pilz disease
Source - Diseases Database
Beta-hexosaminidase-beta-subunit deficiency, GM2 Gangliosidosis, Type II, GM2 gangliosidosis, type 2, Hexosaminidase A and B deficiency Disease, Sandhoff-Jatzkewitz-Pilz disease, Total hexosaminidase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
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