Tay Sachs disease?

How might another genetic condition cause symptoms similar to those of Tay Sachs?

Tay Sachs, if I recall correctly, is bouts of uncontrollable outbursts ...especially profanities for no apparent reason. The following is an excerpt taken from the first article at the source below ... see source for other types of genetically linked diseases ... similar to Tay Sachs.

Tay-Sachs Disease and Sandhoff's Disease

Tay-Sachs disease and Sandhoff's disease are sphingolipidoses caused by hexosaminidase deficiency that produces severe neurologic symptoms and early death.

Gangliosides are complex sphingolipids present in the brain. There are 2 major forms, GM1 and GM2, both of which may be involved in lysosomal storage disorders; there are 2 main types of GM2 gangliosidosis, each of which can be caused by numerous different mutations.

Tay-Sachs disease: Deficiency of hexosaminidase A results in accumulation of GM2 in the brain. Inheritance is autosomal recessive; the most common mutations are carried by 1/27 normal adults of Eastern European (Ashkenazi) Jewish origin, although other mutations cluster in some French-Canadian and Cajun populations.

Children with Tay-Sachs disease start missing developmental milestones after age 6 mo and develop progressive cognitive and motor deterioration resulting in seizures, mental retardation, paralysis, and death by age 5 yr. A cherry-red macular spot is common.

Diagnosis is clinical and can be confirmed by enzyme assay. In the absence of effective treatment, management has focused on screening adults of childbearing age in high-risk populations to identify carriers (by way of enzyme activity and mutation testing) combined with genetic counseling.

Sandhoff's disease: There is a combined hexosaminidase A and B deficiency. Clinical manifestations include progressive cerebral degeneration beginning at 6 mo, accompanied by blindness, cherry-red macular spot, and hyperacusis. It is almost indistinguishable from Tay-Sachs disease in course, diagnosis, and management, except that there is visceral involvement (hepatomegaly and bone change) and no ethnic association.

Krabbe's Disease

Krabbe's disease is a sphingolipidosis that causes retardation, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.

Krabbe's disease (galactosylceramide lipidosis, globoid cell leukodystrophy) is caused by an autosomal recessive galactocerebroside 尾-galactosidase deficiency. It affects infants and is characterized by retardation, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death. Diagnosis is by detecting enzyme deficiency in WBCs or cultured skin fibroblasts. No effective treatment exists. Prenatal testing is available.