Ehlers Danlos Syndrome is a group of genetic disorders that affect the connective tissue of the body. It affects about 1 in 5,000 people globally & the disease course, features and prognosis depend on the specific disorder.
Thalassemiais an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems.
Dandy Walker Syndrome is a neurological disorder that adversely affects brain development, mainly the development of the cerebellum, which is the part of the brain responsible for coordination of movement. In this malformation, various parts of the cerebellum undergo abnormal development, resulting in anatomical abnormalities that can be observed with appropriate neuroimaging.
Kallmann syndrome is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone(GnRH). KS is often diagnosed at puberty due to lack of sexual development
The body has two main types of lymphocytes that can transmutate into lymphomas: B Lymphocytes and T Lymphocytes. When T Cells keep on growing and multiplying in frenzy, rather ferociously, the body is labeled to be suffering with T Cell Lymphoma.
Autoimmune haemolytic anemia occurs when the immune system incorrectly produces antibodies targeted towards red blood cells. These antibodies recognise and ‘lock-on’ to the red blood cells causing the body’s defense mechanism to be activated. This then destroys the red blood cells by lysing or ‘bursting’ them. The result for the patient is that they become anemic, their body will try and keep up by producing more red blood cells, but inevitably the number of working red cells drops and anemia results
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REM sleep behavior disorder or RBD is a condition experienced during the REM phase of sleep in which a person acts out his dreams. Normally, during the REM phase of sleep, our brain is active similar to when we are awake but our muscles are paralyzed to prevent us from acting out our dreams.
Acute intermittent porphyria is an inherited metabolic disorder in which lack of an enzyme called porphobilinogen deaminase results in a build-up of porphyrins in the body. It is a rare disease affecting 1-5 per million of the American population predominantly women between 18-40 years of age.
Dementia is a progressive decline in cognitive function that results in memory deficits and impaired social functioning. Lewy body dementia is the second most common neurodegenerative dementia in elderly people after Alzheimer's disease and affects about 1.4 million people in the US. Lewy body dementia includes two related clinical conditions, Dementia with Lewy bodies and Parkinson's disease dementia.