Tay SachsGm2 Gangliodiosis
Lysosomal Storage Disorder
Physiology of Disease
1. Rare Inherited Disease
a. Autosomal Recessive Pattern
b. Parent has one copy of mutated gene
i. Has no sign or symptoms
c. ¼ affected 2/4carriers ¼ unaffected
2. Destroys Nerve Cells (AKA Neurons)
a. Caused by a mutation of HEXA Gene
i. Instructions for making enzyme beta-hexosamidase A
1. Lysosomal
2. Breaks down fatty substance called GM2 Ganglioside
b. Without HEXA GM2 Gang. builds up to toxic levels
i. Neurons in brain and spinal cord are destroyed causing
symptoms
https://ghr.nlm.nih.gov/condition/tay-sachs-disease
At Risk Populations
1. Cajun community- Louisiana
2. Ashkenazi Jews- Eastern/Central Europe
3. French Canadian- Quebec
4. Old Order Amish- Pennsylvania
Symptoms of Disease
1. Begins at around 6 months of age
a. Loss of motor skills
i. turning over, crawling, sitting up
b. Exaggerated (startled) reactions to loud noise
c. Seizures
d. Loss of vision/hearing
e. Dementia
f. Muscle weakness
i. Shortened muscles
g. Movement problems
h. Cherry-red spot in eyes
i. Trouble swallowing
i. Respiratory Problems/Infections
1. Inhaling fluid/food into lungs
2. Death typical by 2-3 years
https://www.mayoclinic.org/diseases-conditions/tay-sachsdisease/symptoms-causes/syc-20378190
https://www.ncbi.nlm.nih.gov/medgen/11713
http://www.omim.org/entry/272800
https://ehealthyone.com/floppy-baby-syndrome/
https://www.invitra.com/genetic-disorders-and-pgd/autosomal-recessiveinheritance-pattern/
http://peir.path.uab.edu/library/picture.php?/28358
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S000427492009000400019&lng=en&nrm=iso&tlng=en
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