Amyotrophic lateral sclerosis (Q41053): Difference between revisions
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13 August 2026
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Latest revision as of 07:06, 13 August 2026
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal disorder in which progressive signs of LMN and UMN degeneration are seen within one or more of the four regions: bulbar, cervical, thoracic and lumbosacral. Electrophysiological studies may be required to confirm lower motor neuron degeneration and to exclude alternative causes. Neuroimaging may be performed to exclude other causes, which might explain the clinical and electrophysiological features. Familial ALS (FALS) of autosomal dominant inheritance constitutes 5 to 10% of ALS. The clinical profile of FALS and sporadic ALS is similar. Mutations in the C9ORF72 and Cu/Zn superoxide dismutase (SOD1) genes constitute 50-60% of FALS.
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| English | Amyotrophic lateral sclerosis |
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal disorder in which progressive signs of LMN and UMN degeneration are seen within one or more of the four regions: bulbar, cervical, thoracic and lumbosacral. Electrophysiological studies may be required to confirm lower motor neuron degeneration and to exclude alternative causes. Neuroimaging may be performed to exclude other causes, which might explain the clinical and electrophysiological features. Familial ALS (FALS) of autosomal dominant inheritance constitutes 5 to 10% of ALS. The clinical profile of FALS and sporadic ALS is similar. Mutations in the C9ORF72 and Cu/Zn superoxide dismutase (SOD1) genes constitute 50-60% of FALS. |
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CID11:8B60.0
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dki-india-8B60.0
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Concluído
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13 August 2026
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