Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (Q104272): Difference between revisions
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A doença autossômica recessiva de Charcot-Marie-Tooth com rouquidão (ARCMT2K ou CMT4C4) é uma forma grave de início precoce de polineuropatia periférica sensitivomotora de CMT axonal, com início no período neonatal ou na primeira infância com um quadro clínico semelhante ao observado em CMT4A (outra forma autossômica recessiva de CMT4 mas com um fenótipo desmielinizante), incluindo hipotonia, escoliose, voz rouca, paralisia das cordas vocais e insuficiência respiratória. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy, with onset in the neonatal period or early infancy with a clinical picture similar to that seen in CMT4A (another autosomal recessive form of CMT4 but with a demyelinating phenotype) including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/2037351188 / rank | |||||||||||||||
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CID11:ID_2037351188 | |||||||||||||||
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dki-india-ID_2037351188 | |||||||||||||||
| Property / Canary Token: dki-india-ID_2037351188 / rank | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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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 10:08, 17 August 2026
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy, with onset in the neonatal period or early infancy with a clinical picture similar to that seen in CMT4A (another autosomal recessive form of CMT4 but with a demyelinating phenotype) including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2037351188 |
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| English | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness |
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy, with onset in the neonatal period or early infancy with a clinical picture similar to that seen in CMT4A (another autosomal recessive form of CMT4 but with a demyelinating phenotype) including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. |
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CID11:ID_2037351188
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dki-india-ID_2037351188
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Concluído
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16 August 2026
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