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  2. Friedreich's ataxia - Wikipedia

    en.wikipedia.org/wiki/Friedreich's_ataxia

    Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination . The condition typically manifests in childhood or adolescence, with initial ...

  3. Ataxia–telangiectasia - Wikipedia

    en.wikipedia.org/wiki/Ataxiatelangiectasia

    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 ...

  4. Rare disease diagnosis strengthens bond between twin sisters ...

    www.aol.com/news/rare-disease-diagnosis...

    But right before college graduation eight years ago, the twins — now 30 — were shocked to discover that Natalie has Friedreich’s ataxia (FA), a rare, genetic and usually fatal neurological ...

  5. Spinocerebellar ataxia - Wikipedia

    en.wikipedia.org/wiki/Spinocerebellar_ataxia

    There are three forms of spinocerebellar degeneration: Types 1, 2, 3. Symptoms begin during adulthood.) [citation needed] There are five typical autosomal-recessive disorders in which ataxia is a prominent feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), spastic ataxia.

  6. Ataxia - Wikipedia

    en.wikipedia.org/wiki/Ataxia

    Ataxia (from Greek α- [a negative prefix] + -τάξις [order] = "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.

  7. Friedreich’s Ataxia Drugs Market is Projected to Reach US$ 3. ...

    lite.aol.com/tech/story/0022/20240820/9205638.htm

    Friedreich’s Ataxia Drugs Industry News: One of the well-known biotechnology businesses in the US is Design Therapeutics, Inc. The business declared in February 2022 that phase 1 of a clinical trial for the medication DT-216, intended to treat Friedreich's ataxia, was underway. The trial study was finished in December 2022, as anticipated.

  8. ATM serine/threonine kinase - Wikipedia

    en.wikipedia.org/wiki/ATM_serine/threonine_kinase

    ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks (canonical pathway), oxidative stress, topoisomerase cleavage complexes, splicing intermediates, R-loops and in some cases by single-strand DNA breaks. [5]

  9. These vascular risks are strongly associated with severe ...

    www.aol.com/news/controlling-three-things...

    Prior research has linked obesity, high blood pressure and elevated cholesterol to strokes, which is consistent with this new study’s findings. “Our study highlights that some risk factors are ...

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