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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] A–T affects many parts of ...
Serine/threonine-protein kinase ATR, also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein 1 (FRP1), is an enzyme that, in humans, is encoded by the ATR gene. [5] [6] It is a large kinase of about 301.66 kDa. [7] ATR belongs to the phosphatidylinositol 3-kinase-related kinase protein family.
Ankle problems occur frequently, having symptoms of pain or discomfort in the ankles. [1] [2] Mild ankle pain can often be cured by home treatments, although these may be slow to take effect. Specialized physicians are needed if the condition is severe, especially if it has been caused by injury. [2]
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.
Swelling of the feet and ankle area. Painful burning, tingling, or numb sensations in the lower legs. Pain worsens and spreads after standing for long periods; pain is worse with activity and is relieved by rest. Electric shock sensations; Pain radiating up into the leg, [1] behind the shin, and down into the arch, heel, and toes
Telangiectasia in the legs is often related to the presence of venous reflux within underlying varicose veins. Flow abnormalities in smaller veins known as reticular veins or feeder veins under the skin can also cause spider veins to form, thereby making a recurrence of spider veins in the treated area less likely.
Sinus tarsi syndrome is the clinical disorder of pain and tenderness in the sinus tarsi, which is a lateral tunnel in the foot at the junction of the hindfoot and the midfoot, between the ankle and the heel. [1] [2] Most of the time, sinus tarsi syndrome onsets after ankle sprains, however there can be other causes. [3]
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 ...