SANDHOFF DISEASE Meaning and
Definition
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Sandhoff disease is a rare genetic disorder characterized by a deficiency of an enzyme called beta-hexosaminidase A (Hex A), necessary for breaking down a fatty substance known as GM2 ganglioside. This leads to the accumulation of GM2 ganglioside in the brain and other cells, causing progressive damage and deterioration of the nervous system.
The disease commonly manifests in early infancy or childhood, with symptoms including motor and intellectual regression, loss of muscle tone, muscle weakness, impaired movement control, poor coordination, and seizures. As the condition progresses, affected individuals may also experience decreased swallowing ability, respiratory problems, and an increased susceptibility to infections. The rate of disease progression can vary among individuals, and the severity of symptoms may vary as well.
Sandhoff disease is inherited in an autosomal recessive manner, meaning that affected individuals must inherit two copies of the defective gene, one from each parent, to develop the condition. These genes encode the Hex A enzyme, deficiency of which results in the accumulation of GM2 ganglioside in the brain and body tissues.
Currently, there is no cure for Sandhoff disease. Treatment primarily focuses on managing the symptoms and providing supportive care. This may involve physical and occupational therapies, medications to control seizures or other symptoms, and other supportive measures to improve the individual's quality of life. Research efforts are ongoing to explore potential therapies, including enzyme replacement therapy and gene therapy.
Common Misspellings for SANDHOFF DISEASE
- aandhoff disease
- zandhoff disease
- xandhoff disease
- dandhoff disease
- eandhoff disease
- wandhoff disease
- szndhoff disease
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- sanrhoff disease
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Etymology of SANDHOFF DISEASE
The word "Sandhoff Disease" is named after its discoverers, Konrad Sandhoff and his colleague, Ursula von Figura. Sandhoff disease is a rare, genetic, and progressive neurodegenerative disorder that is characterized by the deficiency of an enzyme called β-hexosaminidase A and B. It was first described in 1968 by Konrad Sandhoff and Ursula von Figura, hence the eponymous name.
