Congenital muscular dystrophy type 1D large gene mutation (Q103689): Difference between revisions
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Distrofia muscular congênita caracterizada por anormalidade na glicosilação da alfa-distroglicana que se correlaciona com um padrão cada vez mais grave de efeitos teciduais, estendendo-se de uma distrofia muscular da cinturas (pélvica e escapular) de início na idade adulta com inteligência normal (LGMD tipo 2I) até malformações congênitas graves do cérebro e olhos (síndrome de Walker-Warburg). A distrofia muscular congênita tipo 1D devido a mutações no gene LARGE é a mais rara das alfa-distroglicanopatias identificadas até o momento. As crianças afetadas têm anormalidades neurológicas e musculares típicas associadas às alfa-distroglicanopatias, mas com gravidades muito diferentes. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Congenital muscular dystrophy characterised by abnormality in the glycosylation of the alpha-dystroglycan that correlates with an increasingly severe pattern of tissue effects, extending from an adult-onset limb-girdle muscular dystrophy with normal intelligence (LGMD type 2I) to severe congenital brain and eye malformations (Walker–Warburg syndrome). Congenital muscular dystrophy type 1D due to mutations in LARGE is the rarest of the alpha-dystroglycanopathies identified to date. Affected children have typical neurological and muscle abnormalities associated with the alpha-dystroglycanopathies, but with very different severities. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/987337152 / rank | |||||||||||||||
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CID11:ID_987337152 | |||||||||||||||
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dki-india-ID_987337152 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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16 August 2026
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| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
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Latest revision as of 09:26, 17 August 2026
Congenital muscular dystrophy characterised by abnormality in the glycosylation of the alpha-dystroglycan that correlates with an increasingly severe pattern of tissue effects, extending from an adult-onset limb-girdle muscular dystrophy with normal intelligence (LGMD type 2I) to severe congenital brain and eye malformations (Walker–Warburg syndrome). Congenital muscular dystrophy type 1D due to mutations in LARGE is the rarest of the alpha-dystroglycanopathies identified to date. Affected children have typical neurological and muscle abnormalities associated with the alpha-dystroglycanopathies, but with very different severities.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_987337152 |
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| English | Congenital muscular dystrophy type 1D large gene mutation |
Congenital muscular dystrophy characterised by abnormality in the glycosylation of the alpha-dystroglycan that correlates with an increasingly severe pattern of tissue effects, extending from an adult-onset limb-girdle muscular dystrophy with normal intelligence (LGMD type 2I) to severe congenital brain and eye malformations (Walker–Warburg syndrome). Congenital muscular dystrophy type 1D due to mutations in LARGE is the rarest of the alpha-dystroglycanopathies identified to date. Affected children have typical neurological and muscle abnormalities associated with the alpha-dystroglycanopathies, but with very different severities. |
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CID11:ID_987337152
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dki-india-ID_987337152
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Concluído
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16 August 2026
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