Charcot‐Marie‐Tooth disease in children
Abstract Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals. Despite this, CMT comprises only 118 of...
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| Format: | Article |
| Language: | English |
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Wiley
2024-12-01
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| Series: | Annals of the Child Neurology Society |
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| Online Access: | https://doi.org/10.1002/cns3.20093 |
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| author | Ezgi Saylam Praveen Kumar Ramani Ruthwik Duvuru Brett Haley Aravindhan Veerapandiyan |
| author_facet | Ezgi Saylam Praveen Kumar Ramani Ruthwik Duvuru Brett Haley Aravindhan Veerapandiyan |
| author_sort | Ezgi Saylam |
| collection | DOAJ |
| description | Abstract Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals. Despite this, CMT comprises only 118 of 853 inherited neuropathy entries in the Online Mendelian Inheritance in Man (OMIM) database. This comprehensive review offers a thorough examination of CMT's clinical features, subtypes, genetic underpinnings, and pathomechanisms in pediatric cases. CMT typically manifests as progressively worsening muscle weakness and atrophy, primarily affecting the distal extremities. Patients may also experience foot and ankle deformities, hand atrophy, and other systemic issues. To accurately diagnose CMT, a detailed family history, comprehensive clinical evaluation, nerve conduction studies, and relevant genetic testing are essential. Importantly, establishing a differential diagnosis is crucial during evaluation to rule out other conditions with similar presentations. This review aims to provide clinicians with a valuable resource for diagnosing and managing CMT, emphasizing the need for a streamlined and standardized approach considering advancements in genetic testing and the identification of various subtypes. |
| format | Article |
| id | doaj-art-025e7dd5b3b546c2acfb26bbcc3bec1c |
| institution | Kabale University |
| issn | 2831-3267 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of the Child Neurology Society |
| spelling | doaj-art-025e7dd5b3b546c2acfb26bbcc3bec1c2024-12-20T13:23:37ZengWileyAnnals of the Child Neurology Society2831-32672024-12-012425626810.1002/cns3.20093Charcot‐Marie‐Tooth disease in childrenEzgi Saylam0Praveen Kumar Ramani1Ruthwik Duvuru2Brett Haley3Aravindhan Veerapandiyan4Division of Neurology Nationwide Children's Hospital Columbus Ohio USADepartment of Pediatrics, Division of Neurology University of Arkansas for Medical Sciences, Arkansas Children's Hospital Little Rock Arkansas USADepartment of Pediatrics, Division of Neurology University of Arkansas for Medical Sciences, Arkansas Children's Hospital Little Rock Arkansas USADepartment of Pediatrics, Division of Neurology University of Arkansas for Medical Sciences, Arkansas Children's Hospital Little Rock Arkansas USADepartment of Pediatrics, Division of Neurology University of Arkansas for Medical Sciences, Arkansas Children's Hospital Little Rock Arkansas USAAbstract Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals. Despite this, CMT comprises only 118 of 853 inherited neuropathy entries in the Online Mendelian Inheritance in Man (OMIM) database. This comprehensive review offers a thorough examination of CMT's clinical features, subtypes, genetic underpinnings, and pathomechanisms in pediatric cases. CMT typically manifests as progressively worsening muscle weakness and atrophy, primarily affecting the distal extremities. Patients may also experience foot and ankle deformities, hand atrophy, and other systemic issues. To accurately diagnose CMT, a detailed family history, comprehensive clinical evaluation, nerve conduction studies, and relevant genetic testing are essential. Importantly, establishing a differential diagnosis is crucial during evaluation to rule out other conditions with similar presentations. This review aims to provide clinicians with a valuable resource for diagnosing and managing CMT, emphasizing the need for a streamlined and standardized approach considering advancements in genetic testing and the identification of various subtypes.https://doi.org/10.1002/cns3.20093childrenCMThereditary neuropathyneuropathy |
| spellingShingle | Ezgi Saylam Praveen Kumar Ramani Ruthwik Duvuru Brett Haley Aravindhan Veerapandiyan Charcot‐Marie‐Tooth disease in children Annals of the Child Neurology Society children CMT hereditary neuropathy neuropathy |
| title | Charcot‐Marie‐Tooth disease in children |
| title_full | Charcot‐Marie‐Tooth disease in children |
| title_fullStr | Charcot‐Marie‐Tooth disease in children |
| title_full_unstemmed | Charcot‐Marie‐Tooth disease in children |
| title_short | Charcot‐Marie‐Tooth disease in children |
| title_sort | charcot marie tooth disease in children |
| topic | children CMT hereditary neuropathy neuropathy |
| url | https://doi.org/10.1002/cns3.20093 |
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