遗传性共济失调临床和基因诊断进展（Advances in clinical and genetic diagnosis of hereditary ataxia）.docVIP

遗传性共济失调临床和基因诊断进展（Advances in clinical and genetic diagnosis of hereditary ataxia） 378 Chinese Journal of Neurology 2001 December th Volume 34 The 6 issue is Chin J Neurol, December 2001, Vol 34, No. 6 Summary A. Advances in clinical and genetic diagnosis of hereditary ataxia Wang Kang Wang Guoxiang Hereditary ataxia is a group of progressive ataxia and limb coordination A disorder characterized by motion disorders Due to gene heterogeneity and phenotypic variation, the dislocation is complex miscellaneous It is difficult to make accurate diagnosis only based on phenotype. This article reviews the inheritance of The economic progress of clinical manifestations and genetic research disorders For the purpose of correct diagnosis The road. General order for the diagnosis of hereditary ataxia First, identify the patients main features The sign is ataxia and collects family history data Secondly, excluding non hereditary causes , And there were no specific biochemical abnormalities Finally, to do genetic testing. Disturbance of consciousness. Nystagmus, like language poetry, dysmetria,. Classic FA25 years before the onset of disease A progressive gait; ataxia With cardiomyopathy and skeletal deformities Dysarthria, loss of proprioception of the lower limb, the whole body, or Tremor and gait ataxia It is the major sign of cerebellum, and often accompanied by dementia, pyramidal sign, and the spinal cord and surrounding gods Physical sign. According to the clinical manifestation, the progressive ataxia should be paid in detail Tune [6, 7] Sexual ataxia follows. First, confirm ataxia syndrome and identify genetic characteristics (1) recessive genetic ataxia Typical case of progressive walking difficulty Accompanied by clumsiness, language disorder, or 11Friedreich ataxia (FA) the most common recessive genetic loss of ataxia According to family genetic characteristics, genetic types are determined. Two, exclude non genetic causes Many neurological diseases can lead to progres