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Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
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]
Neurologic symptoms and signs vary depending on the site of the brain abnormalities. Common symptoms are partial epilepsy, asymmetric spasticity, ataxia and cognitive impairment. [1] [2] [3] The latter affects visuospatial and visuoconstructive skills first. The intracranial pressure can be elevated if cysts develop in the brain.
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] A–T affects many parts of ...
Chris Kirmsse's blood pressure was 200/100. Daughter Christine made her go to the ER where Chris learned she had had a heart attack and three blocked arteries. Daughter thought her mom was having ...
A Physics Girl Patreon was established in November 2019. [27] In May 2022, Cowern announced that she had recently married. [28] In July 2022, Cowern reported that she had developed long COVID. She was hospitalized in March 2023, as her symptoms similar to myalgic encephalomyelitis/chronic fatigue syndrome continued to worsen, leaving her unable ...