Inherited neurodegenerative disease

Reference no: EM133610736

Question

Tay-Sachs disease is an inherited neurodegenerative disease and lipid metabolism disorder. The changes in the DNA of a Tay-Sachs patient impact the HEXA gene. The HEXA gene provides instructions for the beta-hexosaminidase A enzyme which is needed to break down GM2 gangliosides that accumulate in nerves cells of the brain and spinal cord. Diagnosis usually occurs early in life and can be diagnosed with blood testing. Patients with Tay-Sachs have muscle weakness, skeletal muscle atrophy, and fasciculations. Additionally, aspiration pneumonia is a common concern due to muscle control limitations. The changes seen in the body as the disease progresses are due to the accumulation of lipids in the brain and spinal cord which compromise neurological function.

Reference no: EM133610736

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