ICD-10 Code E75.00 | GM2 gangliosidosis, unspecified Symptoms, Diagnosis, Billing

Common symptoms include developmental delays, neurological regression, seizures, and hypotonia. Patients may also exhibit vision problems, such as a cherry-red spot on the macula.

Diagnosis typically involves clinical evaluation, genetic testing for HEXA mutations, and enzyme activity assays to confirm hexosaminidase A deficiency.

Treatment focuses on supportive care, including physical and occupational therapy, nutritional support, and management of complications. There is currently no cure for the condition.

Yes, GM2 gangliosidosis is an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated gene for a child to be affected.