Progress in clinical diagnosis of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, mainly involving the pyramidal tract, brain stem and spinal cord anterior horn cells, manifests as progressive muscle atrophy, weakness and cramps, as well as cognitive impairment, and may overlap with frontotemporal dementia....
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| Format: | Article |
| Language: | English |
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Tianjin Huanhu Hospital
2012-06-01
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| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
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| Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/328 |
| _version_ | 1811308429966311424 |
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| author | Qiong YANG Dong⁃sheng FAN |
| author_facet | Qiong YANG Dong⁃sheng FAN |
| author_sort | Qiong YANG |
| collection | DOAJ |
| description | Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, mainly involving the pyramidal tract, brain stem and spinal cord anterior horn cells, manifests as progressive muscle atrophy, weakness and cramps, as well as cognitive impairment, and may overlap with frontotemporal dementia. ALS is familial in 5% of cases, whose clinical manifestations are similar to sporadic. The diagnosis is made mainly based on clinical manifestations, using internationally recognized consensus standard, after rule out conditions that can mimic ALS. Genetic testing provides a new way to accelerate the diagnostic process for early intervention. Part of the gene mutations are associated with specific phenotypes. According to this, prognosis assessment and genetic counseling are able to carry out.
DOI：10.3969/j.issn.1672⁃6731.2012.03.004 |
| first_indexed | 2024-04-13T09:22:55Z |
| format | Article |
| id | doaj.art-1febaa2167674a44b2e0f5b8207474a7 |
| institution | Directory Open Access Journal |
| issn | 1672-6731 |
| language | English |
| last_indexed | 2024-04-13T09:22:55Z |
| publishDate | 2012-06-01 |
| publisher | Tianjin Huanhu Hospital |
| record_format | Article |
| series | Chinese Journal of Contemporary Neurology and Neurosurgery |
| spelling | doaj.art-1febaa2167674a44b2e0f5b8207474a72022-12-22T02:52:31ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67312012-06-01123245251327Progress in clinical diagnosis of amyotrophic lateral sclerosisQiong YANGDong⁃sheng FANAmyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, mainly involving the pyramidal tract, brain stem and spinal cord anterior horn cells, manifests as progressive muscle atrophy, weakness and cramps, as well as cognitive impairment, and may overlap with frontotemporal dementia. ALS is familial in 5% of cases, whose clinical manifestations are similar to sporadic. The diagnosis is made mainly based on clinical manifestations, using internationally recognized consensus standard, after rule out conditions that can mimic ALS. Genetic testing provides a new way to accelerate the diagnostic process for early intervention. Part of the gene mutations are associated with specific phenotypes. According to this, prognosis assessment and genetic counseling are able to carry out. DOI：10.3969/j.issn.1672⁃6731.2012.03.004http://www.cjcnn.org/index.php/cjcnn/article/view/328Amyotrophic lateral sclerosisDiagnosisReview |
| spellingShingle | Qiong YANG Dong⁃sheng FAN Progress in clinical diagnosis of amyotrophic lateral sclerosis Chinese Journal of Contemporary Neurology and Neurosurgery Amyotrophic lateral sclerosis Diagnosis Review |
| title | Progress in clinical diagnosis of amyotrophic lateral sclerosis |
| title_full | Progress in clinical diagnosis of amyotrophic lateral sclerosis |
| title_fullStr | Progress in clinical diagnosis of amyotrophic lateral sclerosis |
| title_full_unstemmed | Progress in clinical diagnosis of amyotrophic lateral sclerosis |
| title_short | Progress in clinical diagnosis of amyotrophic lateral sclerosis |
| title_sort | progress in clinical diagnosis of amyotrophic lateral sclerosis |
| topic | Amyotrophic lateral sclerosis Diagnosis Review |
| url | http://www.cjcnn.org/index.php/cjcnn/article/view/328 |
| work_keys_str_mv | AT qiongyang progressinclinicaldiagnosisofamyotrophiclateralsclerosis AT dongshengfan progressinclinicaldiagnosisofamyotrophiclateralsclerosis |