Spinal muscular atrophy (Q41046): Difference between revisions
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A atrofia muscular espinhal (AMS) é uma doença progressiva com perda de células do corno anterior, levando à fraqueza e a perda muscular. A fraqueza é tipicamente simétrica. Normalmente, os sinais do neurônio motor superior estão ausentes e não há déficit sensitivo. A alimentação e a deglutição podem ser afetadas e pode ocorrer envolvimento dos músculos respiratórios. AMS é um transtorno autossômico recessivo ligado ao cromossomo 5q13 e é causado pela deleção ou mutação do gene SMN 1 (neurônio motor espinal 1). Os quatro tipos de AMS I, II, III e IV são categorizados com base na idade de início da doença e na capacidade de atingir marcos motores. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Spinal muscular atrophy (SMA) is a progressive disorder with loss of anterior horn cells leading to muscle weakness and wasting. The weakness is typically symmetrical. Typically, upper motor neuron signs are absent and there is no sensory deficit. Feeding and swallowing can be affected, and involvement of respiratory muscles may occur. SMA is an autosomal recessive disorder linked to chromosome 5q13 and the disorder is caused by deletion or mutation of SMN 1 (spinal motor neuron 1) gene. The four types of SMA I, II, III and IV are categorised based on the age of onset of the disease and the ability to achieve motor milestones. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/71074342 / rank | |||||||||||||||
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CID11:8B61 | |||||||||||||||
| Property / CURIE: CID11:8B61 / rank | |||||||||||||||
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dki-india-8B61 | |||||||||||||||
| Property / Canary Token: dki-india-8B61 / rank | |||||||||||||||
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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 / rank | |||||||||||||||
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Latest revision as of 07:05, 13 August 2026
Spinal muscular atrophy (SMA) is a progressive disorder with loss of anterior horn cells leading to muscle weakness and wasting. The weakness is typically symmetrical. Typically, upper motor neuron signs are absent and there is no sensory deficit. Feeding and swallowing can be affected, and involvement of respiratory muscles may occur. SMA is an autosomal recessive disorder linked to chromosome 5q13 and the disorder is caused by deletion or mutation of SMN 1 (spinal motor neuron 1) gene. The four types of SMA I, II, III and IV are categorised based on the age of onset of the disease and the ability to achieve motor milestones.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8B61 |
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| English | Spinal muscular atrophy |
Spinal muscular atrophy (SMA) is a progressive disorder with loss of anterior horn cells leading to muscle weakness and wasting. The weakness is typically symmetrical. Typically, upper motor neuron signs are absent and there is no sensory deficit. Feeding and swallowing can be affected, and involvement of respiratory muscles may occur. SMA is an autosomal recessive disorder linked to chromosome 5q13 and the disorder is caused by deletion or mutation of SMN 1 (spinal motor neuron 1) gene. The four types of SMA I, II, III and IV are categorised based on the age of onset of the disease and the ability to achieve motor milestones. |
Statements
CID11:8B61
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dki-india-8B61
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Concluído
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13 August 2026
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