Saturday, January 4, 2014

Tuberous apa format S kleroz Complex (TSC), central nervous system, skin, kidneys (80%), heart (45%


Worldwide, approximately 1 million, ü 10,000 people in our country are thought to be suffering from TSC. For people living with TSC, to correctly evaluate different symptoms at all stages of life, together with specialist doctors in the field of lifelong disease to be monitored at regular intervals is very important.
Tuberous apa format S kleroz Complex (TSC), central nervous system, skin, kidneys (80%), heart (45%), eyes (40%), lung and liver in organs such as common hamartomas are characterized by autosomal dominant for several platforms is associated inconvenience of lifelong. Although familial patients 2/3 without family history, a new mutation has occurred. TSC1 and TSC2 most affected by this syndrome genes encode proteins respectively hamartin and tuberin.
Name of the disease found in the brains apa format of patients with thick, stiff and pale because of tubers, tuber Latin word meaning swelling with the combination of Greek words meaning consists of hard. There is no gender and racial discrimination. TSC symptoms can vary from person to person, and may take years to develop and may not be diagnosed until advanced age.
Called classic triad of mental retardation, epilepsy, sebaceum so-called adenoma lesions. Brain hamartomas are with infantile spasm and / or intractable epileptic seizures may cause untreatable. Often starting in infancy, 75% of patients apa format with TSC and 90 seizures are spending some time in their life.
Although they are more symptoms is not TSC undiagnosed apa format patients as well as the awareness of the disease is rare unidentified remains due to insufficient and / or the patient has been misdiagnosed. For the diagnosis of TSC brain MRI, EEG, renal ultrasound, cardiac echo, EKG, eye (retina), apa format and skin examination is required.
Although there is not yet a cure for TSC, TSC every day to help people and is increasing the number of resources to support emerging. Overall it is treated according to the involvement apa format rgen. Blocker medication for epilepsy seizures or ketogenic diet, autism, learning disabilities, mental retardation, muscle control problems such cases, special education programs, physical therapy may be given as examples.
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