What´s Tuberous Sclerosis Complex?

Associated with autism, there are a number of conditions comorbid to ASC. There is a high prevalence of epilepsy in individuals with autism, with a 1 in 4 prevalence, with seizures often starting in early childhood or adolescence. Tourette’s syndrome also has a higher prevalence within ASC then the neuro-typical population, with a prevalence of 6.5% compared to 2-3%. This may be due to abnormalities in dopamine, glutamate and serotonin abnormalities in autism. There is also a high proportion of individuals with learning difficulties, whether mild, moderate or severe, with a reporting from as low as 20% up to 70% prevalence.

Complex Regional Pain Syndrome (CRPS), previously known as Reflex Sympathetic Dystrophy Syndrome (RSD), is a chronic neuro-inflammatory disorder (Sebastian, 2011). This disorder is characterized by persistent, on-going pain and disability. According to the Reflex Sympathetic Dystrophy Syndrome Association (RSDA), up to two hundred thousand people in the United States are affected with the disorder every year (“Telltale Signs and Symptoms of CRPS/RSD,” n.d.). Although anyone can be diagnosed with this syndrome, it is most commonly seen in women versus men (3.5:1), and in individuals around age forty (“Complex Regional Pain Syndrome Fact Sheet,” 2013; Goebel, 2011). Unlike most syndromes, diseases, or other illnesses, there is no statistical data available for the mortality rates of CRPS since people do not die from the syndrome. However, those with CRPS may die due to the complications associated with CRPS on the various bodily organ systems including: the cardiac system, respiratory system, musculoskeletal system, endocrine system, urological system, and gastrointestinal system (Schwartzman, 2012).

Children affected by Tay Sachs disease are born seemingly normal and develop like any other child in the first three to six months of life. Throughout the next month, and sometimes even years, the baby will progressively lose the ability to see, hear, and move. The child will develop a cherry-colored red spot in the back of the eye and they lose or never even gain important motor and mental skills. The child will stop smiling, crawling, sitting, turning over, and reaching for things. By

There are no treatments or cures for Tay-Sachs disease; however, through palliative care,  treatment is used to keep the child comfortable. Palliative care often includes prescription medication to relieve symptoms, the use of feeding tubes, physical therapy, and respiratory care to avoid issues with the lungs and airways.

While there is no medication which relieves every symptom of TS, there is the possibility of improvement if the patient does not have serious side effects to the medications, of which there are a variety (i.e. pimozide, risperidone, clonidine) (8). Researches have found that the drug haloperidol acts on dopamine and in turn calms the patient. Haloperidol works by blocking the receiving areas on receptor cells where dopamine passes on messages

"Children with Tac-Sachs disease often die by 4 despite the provision of best available care. Their seizures worsen, and eventually fall into an unresponsive vegetative state.

Tay-Sachs disease (TSD) is a fatal genetic disorder resulting in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A

When it comes to an individual having any type of physical medical condition, there are issues that are associated with it. It may not be intend to be that way, but there are some or certain conditions where medically ill individuals have to deal with because of their medical condition. As for Multiple Sclerosis, it has its own issues that make things worst for the individual involved. It seems as though the biggest issue nationally and internationally is the cost of health care and insurance coverage for a medical condition. From doing as much research on Multiple Sclerosis, it is not as easy for some individuals to get the adequate and needed care due to this medical condition. It was bought to my attention from Forbes that “health plans,

But, Duke University Medical center found a cure for this in 2003 by a transplant procedure. At the moment, this isn’t being used as a treatment for this cancer, according to NCIB.gov. In the worst case scenario, you’ve been struck by a thymic cancer. What is your prognosis during and after treatment?

During Dr. Whitfield’s seminar, he discussed his recent research on a rare disease known as systemic sclerosis. From my understanding, systemic sclerosis is an autoimmune or connective tissue disease that causes thickening of the skin and injuries to the vascular system. This disease causes death when significant organs are affected. However, Dr. Whitfield’s research requires sequencing a person’s entire genome in order to give them proper treatment. Systemic sclerosis has subsets that respond to treatments differently, but to precisely identify the specific treatment a patient may need, his or her entire genome sequenced. People are hesitant about being compared to their genetic determinism, so this raises ethical concerns. I, for one, believe

Tuberous sclerosis is a congenital disorder with common findings of retinal astrocytic hamartomas that are found in 44% to 87% of patients6. It is an autosomal dominant

Poliomyelitis or polio, is highly contagious viral infection that can lead to abnormal conditions such as paralysis, breathing problems, or even lead to death. The poliomyelitis is from the word “grey”, myelos referencing to the “matter” of the spinal cord, -itis meaning inflammation. So it means the inflammation of the grey matter of the spinal cord.

There is no cure for this disease. In that case the only treatment is comfort and of course support. In addition, there are specific medications that decrease seizures. I would assume having a child with this disease is costly, time-consuming, stressful and heart breaking. I would seek for help and information from a genetic counselor. If we had the child, I would join support groups to help cope with the situation. All in all, Tay–Sachs disease should be avoided. However, the future could change everything if a cure is discovered. We have to rely on gene therapy, chaperone therapy and core blood transplants. I’d also like to point out that a few sources claim the child can live up to 15 years old, but generally it’s five years old

Systemic sclerosis (SSc) is an autoimmune systemic inflammatory disease characterized by vascular abnormalities, immune system activation and fibrosis. Lymphatic microangiopathy starting in early phases has been described more recently. We present a case of a 46-year-old Caucasian woman who developed severe asymmetric lymphedema in lower limbs over the last 2 years. Lymphoscintigraphy confirmed the compromise in lymphatic drainage. This patient had Raynaud's phenomenon, nailfold capillaroscopy with a scleroderma pattern, cutaneous thickening and was positive for the anti-centromere antibody. She was diagnosed with limited cutaneous systemic sclerosis and was treated with methotrexate, folic acid, prednisolone and lymphatic drainage. After 12

TSC is a heterogeneous genetic disorder with variable expression. The primary pathology of concern is also different depending on the age of the affected individual. The involvement of multiple organ systems, at different stages in life, presents major difficulties in locating and identifying the expertise to comprehensively manage the medical care of TSC patients [13]. Management of Neurologic