Tay-Sachs disease

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Tay-Sachs disease

Cause of disorder

Tay-Sachs happens when both parents had a variant HEXA gene and passed it on. That means neither copy of the baby’s HEXA gene works well.

Tay-Sachs disease is caused by a change in the hexosaminidase subunit alpha gene.

It occurs when a child inherits a flaw (mutation) in the HEXA gene from both parents in chromosome 15

Prevention

There is no way to prevent Tay- Sachs disease as it is inherited from the parents when they receive two variant genes from the parents

Main topic

Community support agencies available, government agencies and funding

Treatments

There is no current cure for and no treatment that is proven to slow progression of the disease.

History of "Tay-Sachs"

It was named after a British ophthalmologist Warren Tay and an American Neurologist Bernard Sachs. *discovered in 1881* Warren Tay made an unusual observation seeing a cherry red spot on the retina of a one-year old patient. The patient was also showing signs of progressive degeneration of the central nervous system.

Ophthalmologist: A doctor of medicine who specializes in the diagnosis and treatment of disorders of the eye.

Neurologist: Specializes in treatment of diseases in the brain and spinal cord peripheral nerves and muscles.

Symptoms

difficulty swallowing,loss of vision or hearing, and muscle stiffness

being very slow to reach milestones like learning to crawl, and losing skills they have already learnt

floppiness and weakness, which keeps getting worse until they're unable to move (paralysis)

Overly startled by noises and movement