SACHS DISEASE Meaning and
Definition
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Sachs disease, also known as GM2 gangliosidosis type 3, is a rare genetic disorder characterized by the progressive destruction of nerve cells in the brain and spinal cord. It belongs to a group of conditions known as lysosomal storage disorders, which result from the deficiency of certain enzymes necessary for the breakdown of specific substances within cells. Sachs disease specifically involves the deficiency of an enzyme called beta-hexosaminidase A (Hex A), which leads to the accumulation of a fatty substance called GM2 ganglioside in the cells of the central nervous system.
Infants with Sachs disease may appear normal at birth, but around the age of two, they start experiencing a decline in motor skills and cognitive abilities. The disease presents with a range of symptoms including muscle weakness and stiffness, impaired muscle coordination, difficulty swallowing, vision problems, seizures, and eventually a loss of previously acquired skills. As the condition progresses, individuals may become increasingly incapacitated, losing the ability to walk, speak, and ultimately breathe independently.
Sachs disease is inherited in an autosomal recessive manner, meaning that individuals must inherit two faulty copies of the gene responsible for the Hex A enzyme deficiency – one from each parent. Due to the progressive nature of the disease and its severe impact on quality of life, treatment options are limited and mainly focus on alleviating symptoms and managing complications. However, ongoing research is being conducted to explore potential future treatments and therapeutic approaches for this devastating condition.
Common Misspellings for SACHS DISEASE
- aachs disease
- zachs disease
- xachs disease
- dachs disease
- eachs disease
- wachs disease
- szchs disease
- sschs disease
- swchs disease
- sqchs disease
- saxhs disease
- savhs disease
- safhs disease
- sadhs disease
- sacgs disease
- sacbs disease
- sacns disease
- sacjs disease
Etymology of SACHS DISEASE
The term "Sachs disease" is not commonly used in medical or scientific literature. However, if you are referring to "Sachs disease" as a variant or misspelling of "Gaucher's disease", then the etymology of Gaucher's disease is as follows:
Gaucher's disease is named after the French physician, Philippe Charles Ernest Gaucher, who first described the disorder in 1882. In his initial publication, Gaucher presented the case of a woman with an enlarged spleen and abnormal cells in her bone marrow.
The disease eventually came to be known as "Gaucher's disease" to honor Dr. Gaucher's pioneering work in identifying and understanding the disorder.
