Tuberous sclerosis epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Epidemiology and Demographics

Epidemiology

  • Tuberous sclerosis complex affects about 1 in 6,000 people, occurring in all races and ethnic groups, and in both genders.
  • Prior to the invention of CT scanning to identify the nodules and tubers in the brain, the prevalence was thought to be much lower and the disease associated with those people diagnosed clinically with learning disability, seizures, and facial angiofibroma.
  • Whilst still regarded as a rare disease, TSC is common when compared to many other genetic diseases, with at least 1 million individuals worldwide.[1][2]
  • The total population prevalence figures have steadily increased from 1:150,000 in 1956, to 1:100,000 in 1968, to 1:70,000 in 1971, to 1:34,200 in 1984, to the present figure of 1:12,500 in 1998.
  • The incidence of rhabdomyomas in the newborn may be as high as 90% and in adults as low as 20%. These tumors grow during the second half of pregnancy and regress after birth. Many will disappear entirely. Alternatively, the tumor size remains constant as the heart grows, which has much the same effect.

Demographics

Tuberous sclerosis occurs in all races and ethnic groups, and in both genders.

References

  1. Curatolo, Paolo, ed. Tuberous sclerosis complex: from basic science to clinical phenotypes. Cambridge University Press, 2003.
  2. NIH - Tuberous Sclerosis - https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#genes - accessed at 06/10/2020