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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 ...
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 ...
Hereditary ataxias, such as Friedreich’s ataxia, are genetic, meaning they are caused by "a defect in a certain gene that is present from the start of a person’s life, inherited from your ...
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.
(20–66) 1–40 years Head and hand tremor 8q SCA17 CAG repeat, 6q (TATA-binding protein) SCA19, SCA22 (KCND3 [24]) Mild cerebellar syndrome, dysarthria SCA25: 1.5–39 yrs Unknown ataxia with sensory neuropathy, vomiting and gastrointestinal pain. 2p SCA27 [25] (FGF14 [24]) 15–20 yrs Unknown ataxia with poor cognition, dyskinesias and ...
The goal of the ride was to raise awareness and research funds for Friedreich's Ataxia (FA). The first rideATAXIA took place between January 22 and March 21, 2007, when Bryant and his father, Mike Bryant, rode their bikes from San Diego, California to the National Ataxia Foundation (NAF) annual membership meeting in Memphis, Tennessee. [3] [4]
Friedreich's ataxia": a genetic neurodegenerative disorder characterized by an unusual gait pattern "Friedreich's disease" or Friedreich's syndrome (paramyoclonus multiplex): an hereditary disease characterized by brief, sudden muscular contractions in the proximal muscles of the extremities.
Harding ataxia is an autosomal recessive cerebellar ataxia originally described by Harding in 1981. [1] This form of cerebellar ataxia is similar to Friedreich ataxia including that it results in poor reflexes and balance, but differs in several ways, including the absence of diabetes mellitus, optic atrophy, cardiomyopathy, skeletal abnormalities, and the fact that tendon reflexes in the arms ...