tuberous sclerosis : causes, symptoms, diagnosis, prevention and treatment
TRANSCRIPT
TUBEROUS SCLEROSISSYMPTOMS | CAUSES | TREATMENT
INTRODUCTION TO TUBEROUS SCLEROSIS
Tuberous sclerosis is also known as tuberoussclerosis complex or TSC. It is a complicatedmulti-system genetic disease which is veryrarely observed but can cause very seriousproblems. As it is a genetic disease, it has theability to cause benign tumours to grow in thebrain and other vital organs like heart, lungs,kidneys, eyes, and on the skin. There are levelsof severity of this disorder and thus, thesymptoms and treatments vary depending onthe case. Since it is a genetic disorder, it can beinherited through the previous generations.
CAUSES OF TUBEROUS SCLEROSIS
As mentioned earlier, tuberous sclerosis is aninherited disease through the geneticmutations which might have been created inthe generations earlier.
This is caused due to the gene mutations intwo genes, the TSC1 and TSC2 which areresponsible for the further conditions.
When the mutation occurs, only a single parentis required to pass it to the child, and in manycases there are new mutations which couldalso be created. Due to this change andgrowth of the mutation, there is no solidfamily tracing of this disease even though it ishereditary.
CONTINUE:- CAUSES OF TUBEROUS
SCLEROSIS
In this disease, both the skin and the centralnervous system are involved and the mostaffected are the brain and the spinal cord.
Since the tumours are benign in nature, thereare no known risk factors of the disease. It isonly that, if a parent has this condition, thechild can be a carrier. If only one parent has it,there is a 50% chance of the child inheriting it.
SYMPTOMS OF TUBEROUS SCLEROSIS
The symptoms can be varied according to theorgan on which the tumours are created, thusthe treatment also depends on that.
For the skin, the symptoms are black spots,red patches on face which contain bloodvessels, shagreen spots on raised patches, andwhite areas that look like ash leaves.
For benign brain tumours, symptoms could beseizures, developmental delays, and mentalretardation.
Heart tumours or rhabdomyoma, is also adiagnosed symptom.
CONTINUE:- SYMPTOMS OF TUBEROUS
SCLEROSIS
Pitted dental enamel is a very commonsymptom seen during this disease. Rubberyand non-cancerous tumours on or around thetongue are also observed.
Rough and small growths around and underthe fingernails and toenails are also observed.
The symptoms for this disease differ fromperson to person, also depending on age andsex, so they cannot be generalized foreveryone. Also, the above mentionedsymptoms can be of various other diseases,hence it is advised that you get yourselfchecked if you start showing any of theaforementioned symptoms.
TREATMENT OF TUBEROUS SCLEROSIS
As mentioned earlier, the treatment for thiscondition totally depends on the symptoms thatare observed in a patient. Apart from that, thereis no cure or treatment for this disease. Whenthese symptoms become serious due to someother complications in the body, the diagnosisof these problems helps in deciding thetreatments for them. All you can do to treattuberous sclerosis is trying and minimize thesymptoms observed. The benign tumours can besurgically removed if they are creating too manyproblems in the body, or in the functioning ofthe organs.