Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (Q104272): Difference between revisions
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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 |
|---|---|---|---|
| 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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