Tuberous sclerosis complex

Tuberous Sclerosis Complex Treatments What are the treatment options for tuberous sclerosis complex?

Tuberous sclerosis complex

The disorder is characterized by seizures, developmental delays, kidney disease, behavioral problems, and the growth of benign tumors tubers on vital organs such as the brain, kidneys, and heart. These tumors typically calcify with age, becoming hard sclerotic. Children with tuberous sclerosis may have autistic-like symptoms.

What is tuberous sclerosis complex?

Tuberous sclerosis affects as many as 25, to 50, individuals in the United States and about 1 to 2 million individuals worldwide. Although this disorder can be inherited as an autosomal dominant trait, two-thirds of cases are the result of a spontaneous genetic change on one of two genes, TSC1 or TSC2.

The TSC1 gene is located on chromosome 9 and produces the protein hamartin. The TSC2 gene is located on chromosome 16 and produces the protein tuberin.

The tuberous sclerosis complex

Hamartin and tuberin are believed to act as tumor growth suppressors. Therefore, their dysfunction may underlie the appearance of tumors that characterize tuberous sclerosis. There is currently no cure for this disease; however, surgical intervention and a number of treatments can help affected individuals.May 19,  · Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body.

Common signs and symptoms include patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. General Discussion Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder can cause a wide range of potential signs and symptoms and is associated with the formation of benign (non-cancerous) tumors in various organ systems of the body.

Tuberous Sclerosis - NORD (National Organization for Rare Disorders)

Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and r-bridal.com complex is known as a tumor suppressor. Mutations in these genes can cause tuberous sclerosis r-bridal.coming on the grade of the disease, mental retardation, .

Tuberous sclerosis is a genetic disorder that can affect any or all systems of the body. The disorder is characterized by seizures, developmental delays, kidney disease, behavioral problems, and the growth of benign tumors (tubers) on vital organs such as the brain, kidneys, and heart.

Tuberous sclerosis complex

The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder affecting children and adults, results from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2.

She established and directs the Herscot Center for Tuberous Sclerosis Complex, and is Director of the Pediatric Epilepsy Service at Massachusetts General Hospital.

She is an Associate Professor in Neurology at Harvard Medical School.5/5(3).

Tuberous Sclerosis Complex (TSC)