Tay-Sachs disease

This code identifies Tay-Sachs disease, a rare, inherited neurodegenerative disorder characterized by the absence of the enzyme beta-hexosaminidase A. This enzyme deficiency leads to the accumulation of GM2 gangliosides in nerve cells, causing progressive neurological deterioration. Infants typically present with developmental regression, cherry-red spots in the macula, and an exaggerated startle response.

Use this code for confirmed diagnoses of Tay-Sachs disease, typically based on genetic testing or enzyme assays demonstrating absent or severely deficient hexosaminidase A activity. This code is appropriate for documenting the underlying genetic condition responsible for the patient's neurological symptoms.

• Do not confuse with other lysosomal storage disorders; ensure documentation specifically mentions Tay-Sachs.
• Code any associated neurological manifestations (e.g., seizures, developmental delay) separately as secondary diagnoses.
• Genetic counseling and testing results are key supporting documentation for this diagnosis.