Tay-Sachs Disease
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Tay-Sachs disease is a rare neurodegenerative genetic disorder that results in an excess amount of buildup of gangliosides (fatty substances) in neurons in the brain and spinal cord. This buildup is caused by the lack of an enzyme that helps break down gangliosides.
Symptoms
The symptoms of Tay-Sachs Disease vary based on the type that the individual has.
Infantile form:
the most common and severe type
symptoms usually appear around 3-6 months of age
symptoms include muscle weakness, seizures, hearing or vision loss, exaggerated startle reaction to loud noises, cherry-red spots in the eyes, trouble with swallowing, and loss of motor skills (crawling, sitting up)
Infants with this form of the disease usually only live for a few years.
Juvenile form:
symptoms start appearing during childhood (two years old - teenage years)
symptoms include seizures, muscle weakness/loss of coordination, problems with speech, and vision loss
Late onset form:
symptoms usually appear during late teenage years or adulthood
less severe form
symptoms and their severity vary; may include progressive muscle weakness and spasms, loss of coordination, and difficulties speaking/swallowing
Treatment
There is currently no cure for Tay-Sachs Disease, and no treatments have been shown to slow the progression of the disease. Treatment for Tay-Sachs is mainly focused on managing an individual’s symptoms, which can include medications, respiratory care, physical/occupational/speech therapy, and nutritional support.
Sources:
This is first time I heard this disease good to learn