Presentation
In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four. [news-medical.net]
Neurologic
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Seizure
By about two years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach out. [genome.gov]
As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. [ghr.nlm.nih.gov]
Treatment
Treatment involves managing the symptoms of the disease. Defect in Hex-A Gene Causes Tay-Sachs: Tay-Sachs disease results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of this gene. [genome.gov]
There is currently no cure or treatment. Tay-Sachs disease is a rare disease. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common. [news-medical.net]
Biology and potential strategies for the treatment of GM2 gangliosidoses. Mol Med Today. 1998 Apr;4(4):158-65. Review. Fernandes Filho JA, Shapiro BE. Tay-Sachs disease. Arch Neurol. 2004 Sep;61(9):1466-8. Review. Kaback MM, Desnick RJ. [ghr.nlm.nih.gov]
Pathophysiology
Further Reading All Tay-Sachs Disease Content Tay-Sachs Disease Pathophysiology Tay-Sachs Disease Diagnosis Tay-Sachs Disease Prevention Tay-Sachs Disease Society and Culture This article is licensed under the Creative Commons Attribution-ShareAlike License [news-medical.net]
Prevention
Further Reading All Tay-Sachs Disease Content Tay-Sachs Disease Pathophysiology Tay-Sachs Disease Diagnosis Tay-Sachs Disease Prevention Tay-Sachs Disease Society and Culture This article is licensed under the Creative Commons Attribution-ShareAlike License [news-medical.net]
If either or both Hex-A genes are active, the body produces enough of the enzyme to prevent the abnormal build-up of the GM2 ganglioside lipid. [genome.gov]
Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. [ghr.nlm.nih.gov]