E75.02

Approximate Synonyms

• Tay sachs disease

Clinical Information

• A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the hexa gene. It is characterized by deficiency of beta-hexosaminidase a, resulting in accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle atrophy, and paralysis.

• An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the hexosaminidase a resulting in lipid-laden ganglion cells. It is also known as the b variant with increased hexosaminidase b but absence of hexosaminidase a) and is strongly associated with ashkenazic jewish ancestry.

• 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.

• Tay-sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in tissues and nerve cells of the brain. This buildup destroys the nerve cells, causing mental and physical problems. Infants with tay-sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, mental and physical abilities deteriorate. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Even with the best of care, children with tay-sachs disease usually die by age 4.tay-sachs is most common in eastern european ashkenazi jews. A blood test can determine if you carry or have the disease. There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes.

Details

• E75.02 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E75.02 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E75.02 – other international versions of ICD-10 E75.02 may differ.