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Tubular Sclerosis Complex

dr shukla neurologist tx
Medically reviewed by Dr. Shukla
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dr shukla neurologist tx
Medically reviewed by Dr. Shukla

Tuberous Sclerosis Complex (TSC) is a rare genetic illness. It affects many organs in the body, including the brain, heart, kidneys, and skin. TSC affects about 1 in 6,000 individuals worldwide and can occur in people of any race or ethnicity. The severity of the condition varies widely. And some people may have only mild symptoms. At the same time, others may have significant disabilities or life-threatening complications.

This article aims to provide an overview of the illness, including causes of Tuberous Sclerosis, symptoms, diagnosis, and treatment options. It will also highlight the latest research and advancements in the field. And it will provide practical advice and support for people with the condition.

Tubular Sclerosis is a potentially dangerous disease. And its symptoms and complications can significantly impact the quality of life. But with early diagnosis and appropriate management, many people can lead fulfilling lives and achieve their full potential.

What Is Tubular Sclerosis Complex?

It’s a rare genetic illness. It affects many organ systems in the body. Mutations in either the TSC1 or TSC2 genes cause it. It regulates cell growth and proliferation. These mutations result in the formation of benign tumors called hamartomas. They are in various body parts, including the brain, skin, kidneys, and heart.

The symptoms of Tubular Sclerosis can be highly variable and affect individuals in different ways. Skin abnormalities are often the earliest and most visible sign. Up to 90% of individuals with the illness experience skin lesions or patches. These can be small white spots called “ash-leaf spots.” Or there can be larger patches of thickened, roughened skin known as “shagreen patches.”

The illness can also cause seizures, cognitive impairment, and behavioral problems. Epileptic seizures are a common symptom of Tuberous Sclerosis. They affect around 85% of individuals with the condition at some point. Seizures are often difficult to treat with standard medications. And they can have a significant impact on quality of life.

The condition can also cause tumors in the brain. It can lead to a range of neurological symptoms. They include developmental delays, intellectual disability, and autism spectrum illnesses. Other potential complications include kidney disease, lung problems, and heart abnormalities.

Diagnosis can be challenging. The symptoms of Tuberous Sclerosis can be highly variable and may not appear until later in life. Genetic testing is the most reliable method of diagnosing. And it’s recommended for individuals who have symptoms consistent with the illness.

There is no cure for Tubular Sclerosis Complex. But various treatments are available. They help to manage the symptoms and improve the quality of life. Medications such as anti-seizure drugs can help control seizures. And behavioral and educational interventions can help address cognitive and developmental problems. Surgery may be necessary in some cases. It removes tumors or corrects other complications.

Causes of Tuberous Sclerosis

There are several possible causes, including:

  • Inherited mutations. In approximately 70-80% of cases, Tuberous Sclerosis is an inheritance from a parent with the illness. In these cases, the mutated TSC1 or TSC2 gene is passed down from one generation to the next.
  • Spontaneous mutations. In around 20-30% of cases, TSC disease arises from a spontaneous mutation in either the TSC1 or TSC2 gene. This means the mutation occurs for the first time in the affected individual. And it’s not a Tuberous Sclerosis inheritance from either parent.
  • Mosaicism. In rare cases, the condition can arise from a genetic mutation early in fetal development. This can lead to a condition called mosaicism. Some cells in the body carry the mutation, while others do not. Individuals with mosaic TSC may have milder symptoms.
  • Genetic modifiers. In some cases, other genetic factors may change the expression of the TSC1 or TSC2 gene. It leads to the development of the condition. These modifiers of Tuberous Sclerosis may be an inheritance or occur spontaneously.

The specific causes of Tuberous Sclerosis may vary from person to person. But the underlying mechanism of the illness is the same. Mutations in the TSC1 or TSC2 genes lead to the formation of hamartomas in various parts of the body. These hamartomas can cause various symptoms, depending on their location and size.

It is important to note that environmental factors, such as diet or exposure to toxins, are not causes of Tuberous Sclerosis. Environmental factors can sometimes contribute to the development of other genetic illnesses. But they’re not thought to play a role in the condition.

symptoms of Tuberous Sclerosis

Symptoms of Tuberous Sclerosis 

The symptoms can vary widely from person to person and may range from mild to severe. Here are some of the most common signs:

  • Skin abnormalities. Skin abnormalities are often the earliest and most visible sign of TSC disease. They are small white spots called “ash-leaf spots”. Or there are also larger patches of thickened, roughened skin. They’re known as “shagreen patches.” Other skin symptoms may include facial angiofibroma. They are small red or pink bumps on the face, and periungual fibromas, which are growths around the nails.
  • Seizures. Epileptic seizures are a common sign, affecting around 85% of individuals. Seizures can be difficult to treat with standard medications. And they can have a significant impact on quality of life.
  • Neurological symptoms. Tubular Sclerosis can cause tumors in the brain. It can lead to a range of neurological signs. They’re developmental delays, intellectual disability, and autism spectrum illness. Other potential neurological symptoms may include headaches, migraines, and sleep problems.
  • Kidney disease. TSC disease can cause tumors in the kidneys. They can lead to kidney disease and, potentially, kidney failure. Symptoms may include high blood pressure, proteinuria, and decreased kidney function.
  • Eye abnormalities. The illness can cause eye tumors, leading to vision problems or blindness. Other eye abnormalities may include retinal hamartomas. They are non-cancerous growths on the retina.
  • Lung problems. Tubular Sclerosis can cause tumors in the lungs. They may lead to breathing difficulties, coughing, or shortness of breath. Lung problems may more likely occur in individuals with a more severe form of the condition.
  • Heart abnormalities. The illness can cause heart tumors, leading to heart problems such as arrhythmias or heart failure. Other potential heart symptoms may include chest pain or palpitations.
  • Behavioral and cognitive problems. The condition can cause a range of behavioral and cognitive problems. They’re developmental delays, learning disabilities, and autism spectrum illnesses. Individuals may also experience anxiety, depression, or other mental health problems.

Can You Live a Normal Life with Tuberous Sclerosis? 

TSC can be a serious condition. But many individuals with the illness can live full and productive lives.

The impact on an individual’s life will depend on the severity of their symptoms. The condition may have little impact on daily life for individuals with mild signs. But the illness can be more challenging to manage for those with more severe symptoms of Tuberous Sclerosis.

Treatment typically focuses on managing symptoms and preventing complications. This may involve a combination of medications, surgery, and other interventions. Those are physical or occupational therapy. In some cases, genetic counseling may also help.

Tubular Sclerosis can be a lifelong condition. But many individuals with the illness can lead normal or near-normal lives. For example, with appropriate treatment, individuals may be able to:

  • Attend school or work. Many individuals with TSC disease can attend school, college, or work. It depends on the severity of their symptoms and any associated disabilities.
  • Take part in physical activities. Depending on the severity of their symptoms, some may be able to take part in a range of physical activities.
  • Have relationships and start families. With appropriate medical care, many can form close relationships and start families.
  • Maintain good health. By managing symptoms, many maintain good health and cut the risk of complications.

It is important to note that TSC can be a complex condition and may need ongoing medical care and support. Individuals may need to work closely with their healthcare providers. Also, some individuals may have disabilities or other challenges. Those need extra support and accommodations.


In conclusion, Tuberous Sclerosis Complex is a rare genetic illness. It can affect multiple organ systems in the body. The impact of illness on an individual’s life will depend on the severity of their symptoms. But with appropriate treatment, many can lead normal or near-normal lives. Treatment for TSC typically focuses on managing symptoms and preventing complications. And it may involve a combination of medications, surgery, and other interventions.


  • How serious is tuberous sclerosis?

The severity of Tuberous Sclerosis Complex TSC can vary from person to person. Some individuals with TSC may experience only mild symptoms. And others may have more severe symptoms and complications. TSC can potentially affect many organ systems in the body. They include the brain, skin, kidneys, and heart. 

  • What causes tuberous sclerosis?

Tuberous Sclerosis Complex occurs due to mutations in the TSC1 or TSC2 genes. These genes provide instructions for producing proteins. They help regulate cell growth and division. When these genes are mutated, cells may grow and divide uncontrollably. It leads to the formation of tumors or other abnormalities. 

  • Is tuberous sclerosis a mental illness?

Tuberous Sclerosis Complex TSC is not a mental illness. However, it can affect the brain and cause neurological symptoms. Some individuals with TSC may experience developmental delays, intellectual disability, or behavioral problems. For example, autism spectrum disorder. But TSC is a genetic disorder.

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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