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Doctor insights on: Tuberous Sclerosis With Autism

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What are the tests for tuberous sclerosis?

What are the tests for tuberous sclerosis?

Genetic mutations: Tuberous sclerosis complex is caused by mutations in the ts1 gene on chromosome 16 and the ts2 gene on chrosome 9.Only one of these has to be affected to have symptoms. Symptoms and their severity vary, even within a family. If a parent has tsc, each of his childen has a 50% chance of having it. Spontaneous mutations also occur. See http://www.Tsalliance.Org for comprehensive information. ...Read more

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Dr. Johanna Fricke
623 doctors shared insights

Autism (Definition)

Autism is a neurodevelopmental disorder affecting three areas: abnormal socialization, communication, and restricted interests with repetitive patterns of behavior. It is usually detected in the first two years of life. Cause is unknown but strong evidence points to an interplay between genetic and environmental factors. Patients with autism may display significant delays in certain developmental areas while having normal or superior strengths in other developmental or learning domains. The severity of the disorder is highly variable ...Read more


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What are the symptoms of tuberous sclerosis?

What are the symptoms of tuberous sclerosis?

TUBEROUS SCLEROSIS: Sx are mental retardation, epilepsy, learning disorder, behavioral problems and cardiac, renal, cranial manifestations.Cutaneous findings are shagreen patches, neurofibromatosis, cafe-au-lait spots and tumors. ...Read more

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Is there a cure for tuberous sclerosis?

Is there a cure for tuberous sclerosis?

No cure only help: Once a person has the ts gene they have its associated problems for life. They can acquire it from a parent or get it as a new mutation, but the mutation effects every cell in the body. It can be very mild. I knew a college grad who adopted rather than risk passing it & she just had a bit of skin findings. I have treated many who had the soft tumors come up in the brain, kidneys etc. With many pbs. ...Read more

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What is tubular sclerosis (or tuberous sclerosis)?

Neurological disorde: Tuberous sclerosis is a disorder involving brain structure, skin manifestations and cognitive function. Brain malformations called tubers are characteristic. Skin abnormalities of sebaceous adenomas and subungual fibromas. See a neurologist for more information. ...Read more

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What is the treatment for tuberous sclerosis?

Not curable: The disease is managed by surgery for the tumors as applicable, and medications. No two cases are alike. Ask about sirolimus if this question applies to a family member. Patients who wish to become parents will do well to learn how to prevent transmission of the illness to their children. Best wishes. ...Read more

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What are some treatments for tuberous sclerosis?

What are some treatments for tuberous sclerosis?

Managed, not cured: Ts is a lifelong process whose treatment begins with recognition, education and monitoring through life. It can be quite mild with no long term effects, or be devastating.Related seizures & emergence of soft tissue "tubers" in the brain & major organs can create problems.Periodic ct scans & ultrasounds to monitor the organs are common.Coordinated efforts of local & specialty drs is a must. ...Read more

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Can tuberous sclerosis be an auto immune disease?

No: Ts is a genetic disorder that often arises from a new mutation. There are a variety of skin findings that can point to the diagnosis.It is the finding or "tubers" that can arise in the brain and other organs that can produce the most impairment in quality of life. It can be so mild that a college grad doesn't know they have it, or disabling by late childhood. ...Read more

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Is there an association between molluscum pendulum and tuberous sclerosis?

Can be: Molluscum pedulum are listed as one of many skin findings in ts. Rare in early childhood they show up in as many as 20% of adults. ...Read more

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My daughter was diagnosed with tuberous sclerosis complex. Will all such children get tumors?

My daughter was diagnosed with tuberous sclerosis complex.  Will all such children get tumors?

Variable process: These kids get tubors, fleshy benign growths that can show up in a lot of places like the brain, heart, kidney etc.Thought they do not spread like cancer, they can interfere with normal organ function & trigger seizures.Ts can be very mild, i knew one mom who found out after college & chose to adopt rather than risk passing it on. Regular tests, ultrasound or ct can help avoid surprise complications. ...Read more

Sclerosis (Definition)

We neurologists employ the term to describe localized damage involving the central nervous system, and sclerosis means scarring. If in many areas, might be multiple sclerosis. If affecting the motor nerve cell, ...Read more


Dr. Johanna Fricke
516 doctors shared insights

Autism Spectrum Disorder (Definition)

Autism spectrum disorder, also called pervasive developmental disorder (PDD), is a type of condition that includes life-long impairment in the ability to communicate and to have normal social interactions. These include ...Read more