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GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]
Lissencephaly (/ ˌ l ɪ s. ɛ n ˈ s ɛ f. ə l. i /, meaning 'smooth brain') [1] is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. [2] It is caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds and grooves . [3]
Italo is a light-hearted journalist, darkened by a personal drama that distracts him from work. He encounters with Giorgia, a young girl suffering from Friedreich's Ataxia, who will change his life. Comedienne Fiona Cauley has Friedrich's Ataxia and often uses her disability and wheelchair in her comedic routines.
The term post-infectious fatigue syndrome was initially proposed as a subset of "chronic fatigue syndrome" with a documented triggering infection, but might also be used as a synonym of ME/CFS or as a broader set of fatigue conditions after infection. [26] Many individuals with ME/CFS object to the term chronic fatigue syndrome. They consider ...
McLeod syndrome (/ m ə ˈ k l aʊ d / mə-KLOWD) is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessively inherited mutations in the XK gene on the X chromosome .
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [ 2 ]
Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic ...
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