Tuberous Sclerosis Complex Incidence and Characteristics

Epidemiological Data

The incidence of tuberous sclerosis complex (TSC) at birth is approximately 1 in 5,800 live births, affecting over one million patients worldwide 1
The birth incidence of TSC is well-established across multiple high-quality sources, with a primary incidence figure of 1 in 5,800 live births 1
Epilepsy complications, such as status epilepticus and sudden unexpected death in epilepsy, are significant morbidity and mortality risks in TSC patients 1
Kidney disease is the most common cause of death in adults with TSC 1
Infectious complications are also a significant risk in TSC patients 1

TSC follows an autosomal dominant inheritance pattern, with two-thirds to three-fourths of all cases resulting from new mutations 2
Only one-quarter to one-third of TSC cases are inherited from an affected parent 2
Parents of a child with apparently sporadic TSC have a 1-2% risk of having another affected child due to possible germline mosaicism 2

Less than 40% of TSC patients present with the classic triad of facial angiofibromata, developmental delay, and intractable epilepsy, making clinical recognition challenging 1, 2