Amyotrophic lateral sclerosis (Q41053): Difference between revisions
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A esclerose lateral amiotrófica (ELA) é um transtorno progressivo e fatal em que sinais progressivos de NMI e degeneração NMS são vistos em uma ou mais das quatro regiões: bulbar, cervical, torácica e lombossacra. Estudos eletrofisiológicos podem ser necessários para confirmar a degeneração do neurônio motor inferior e para excluir causas alternativas. A neuroimagem pode ser realizada para excluir outras causas, o que pode explicar as características clínicas e eletrofisiológicas. ELA familiar de herança autossômica dominante, constitui 5 a 10% de ALS. O perfil clínico de ELA familiar e ELA esporádico é semelhante. Mutações nos genes C9ORF72 e SOD1 (mutação da enzima Cu,Zn-superóxido dismutase) constituem 50-60% dos casos de ELA familiar. | |||||||||||||||
| description / en | description / en | ||||||||||||||
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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| Property / Canonical URI: https://id.who.int/icd/entity/1982355687 / rank | |||||||||||||||
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CID11:8B60.0 | |||||||||||||||
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dki-india-8B60.0 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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| Property / Linked ICD 10: G12.2 / rank | |||||||||||||||
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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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8B60.0 |
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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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