منابع مشابه
Early-onset cerebellar ataxia with retained tendon reflexes.
The authors report a clinical review of 16 childhood cases with early-onset cerebellar ataxia with retained tendon reflexes. The preservation of tendon reflexes distinguishes this disorder from Friedreich's ataxia. The mean age of onset of symptoms was 7.1 years. The main presenting symptom was abnormal gait (100%). Ataxia of gait and limbs and normal or increased tendon reflexes were found in ...
متن کاملDysarthria in Friedreichs Ataxia: A Perceptual Analysis
The aims of this study were to: (1) evaluate the perceptual speech dimensions, speech intelligibility and dys arthria severity of a group of individuals diagnosed with Friedreich’s ataxia (FRDA); (2) determine the presence of subgroups within FRDA dysarthria; (3) investigate the relationship between the speech outcome and the clinical factors of disease progression. The study included 38 indivi...
متن کاملEarly onset cerebellar ataxia with retained reflexes: a clinical and genetic conundrum.
A taxia is a broad term that literally means " without order ". The term locomotor ataxia has been most commonly used to refer to motor incoordination. The most widely recognized form, cerebellar ataxia (CA), can be classified as primary, idiopathic, acquired (or secondary) and sporadic 1. Primary, CAs are further subdivided into congenital and hereditary, the latter including autosomal recessi...
متن کاملEarly onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia.
Twenty patients are described with a distinctive clinical syndrome characterised by progressive cerebellar ataxia developing within the first two decades. This is associated with dysarthria, pyramidal signs in the limbs, normal or increased knee jerks and upper limb reflexes and in some instances sensory loss. Inheritance is probably autosomal recessive in the majority, if not all, of the cases...
متن کاملWilliam Farr: founder of modern concepts of surveillance.
Considerable confusion surrounds the use of the term surveillance in the context of public health but the principles underlying all uses are as old as epidemiology itself. William Farr has contributed more than anyone else to the development of these principles and to the demonstration of their value in practice on a large scale. This paper re-examines the basic tenets which guided him and the ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1995
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-9-4-4