ICD-9-CM 330.1 is a billable medical code that can be used to indicate a diagnosis on a reimbursement claim, however, 330.1 should only be used for claims with a date of service on or before September 30, 2015. For claims with a date of service on or after October 1, 2015, use an equivalent ICD-10-CM code (or codes).
Autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase a is deficient, leading to the accumulation of gm2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with ashkenazic jewish ancestry
Group of often fatal inherited diseases marked by the accumulation of gangliosides in lysosomes secondary to enzymatic deficiency states; gangliosidoses include tay-sachs disease, gangliosidosis gm1, gangliosidoses gm2, and sandhoff disease; which share the infantile or childhood onset of central nervous system deterioration