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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 ]
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]
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.
[1]: 29–30 In the WHO's most recent classification, the ICD-11, chronic fatigue syndrome and myalgic encephalomyelitis are named under post-viral fatigue syndrome. [27] 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 ...
Cerebrospinal fluid is produced by the choroid plexus in the ventricles of the brain and contained by the dura and arachnoid layers of the meninges. [23] [42] [64] The brain floats in CSF, which also transports nutrients to the brain and spinal cord. As holes form in the spinal dura mater, CSF leaks out into the surrounding space.
Cognitive disengagement syndrome (CDS) is a syndrome characterized by developmentally inappropriate, impairing, and persistent levels of decoupled attentional processing from the ongoing external context and resultant hypoactivity.
Recently, however, a survey from Women In Sport found that girls are quitting sports when they become teens, reportedly due to lower self-esteem and more concerns about their bodies and appearance ...
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]
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