Harding ataxia | |
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Other names | Early onset cerebellar ataxia with retained reflexes (EOCARR) |
Harding ataxia has an autosomal recessive pattern of inheritance. | |
Specialty | Neurology |
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 and knees remain intact. [2] This form of ataxia is characterized by onset in the first 20 years, and is less severe than Friedreich ataxia. Additional cases were diagnosed in 1989, [3] 1990, [4] 1991, [5] and 1998. [6]
40 cases were diagnosed in northern Italy between 1940 and 1990. The gene frequency for this autosomal recessive condition was estimated at 1 in 218. [7] In 1989, 16 cases on EOCA were diagnosed in children with a mean onset age of 7.1 [3] In 1990, 20 patients affected by EOCA were studied. It was found that the ataxia of this study's participants affected the pyramidal tracts and peripheral nerves. [4]
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Ataxia 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. Ataxia is a clinical manifestation indicating dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum. These nervous system dysfunctions occur in several different patterns, with different results and different possible causes. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. The word is from Greek α- [a negative prefix] + -τάξις [order] = "lack of order". Dystaxia is a mild degree of ataxia.
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms.
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Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias.
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Ramsay Hunt syndrome type 1 is a rare, degenerative, neurological disorder characterized by myoclonus epilepsy, intention tremor, progressive ataxia and occasionally cognitive impairment
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Peter Kynaston "PK" Thomas was a Welsh academic neurologist, author, teacher and administrator. From 1974 to 1991 he was Professor of Neurology at the University of London. He was a fellow of University College London and the Royal Society of Medicine, and was the recipient of the Medal of the Association of British Neurologists. Thomas was, at various times, the president of the Association of British Neurologists, the European Neurological Society, and the Peripheral Nerve Society.
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Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an autosomal dominant manner. ADCA is a genetically inherited condition that causes deterioration of the nervous system leading to disorder and a decrease or loss of function to regions of the body.
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Autosomal recessive cerebellar ataxia describes a heterogeneous group of rare genetic disorders with an autosomal recessive inheritance pattern and a clinical phenotype involving cerebellar ataxia.
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William Walton Gooddy (1916–2004) was an English neurologist.
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