What causes tubular sclerosis?
What causes tuberous sclerosis? Tuberous sclerosis is caused by changes (mutations) in either the TSC1 or TSC2 gene. These genes are involved in regulating cell growth, and the mutations lead to uncontrolled growth and multiple tumours throughout the body.
What mutation causes tuberous sclerosis complex?
Tuberous sclerosis is caused by an alteration (mutation) in one of two different genes, the TSC1 gene or the TSC2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent.
How do you test for tuberous sclerosis?
Tests for tuberous sclerosis
- an eye examination – to check for eye tumours.
- a skin examination – to look for abnormal growths or patches of pale or thickened skin.
- an MRI scan – to detect tumours in the brain or kidneys.
- a CT scan or ultrasound scan – to detect tumours in the kidneys, heart or lungs.
What is tuberculosis sclerosis?
Tuberous sclerosis is a rare disease that causes tumors, or growths, in the brain and other organs. These growths can occur in the skin, kidneys, eyes, heart, or lungs. They are usually benign (not cancerous). However, when severe, tuberous sclerosis can shorten your life.
Why is it called tuberous sclerosis complex?
However, clinical features can be subtle initially, and many signs and symptoms take years to develop. As a result, TSC can be unrecognized or misdiagnosed for years. The name tuberous sclerosis comes from the characteristic tuber or potato-like nodules in the brain, which calcify with age and become hard or sclerotic.
Is TSC life-threatening?
All individuals with TSC are at risk for life-threatening conditions related to the brain tumors, kidney lesions, or LAM. Continued monitoring by a physician experienced with TSC is important. With appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.
Is TSC autosomal dominant?
TSC follows an autosomal dominant inheritance pattern, in which case a mutation happens in only 1 copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation.
Can tuberous sclerosis be cured?
Although there is no cure for tuberous sclerosis, treatment can help manage specific symptoms. For example: Medication. Anti-seizure medications may be prescribed to control seizures.