Rehabilitation in Charcot-Marie-Tooth disease type 1
Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy with a prevalence of approximately 1 in 2,500 [1]. The most common subtype is the autosomal dominant type 1A, which is caused by an intrachromosomal duplication on chromosome 17p11.2 [2,3]. A consecutive primary loss of t...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Whitehouse Publishing
2014-09-01
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| Series: | Advances in Clinical Neuroscience & Rehabilitation |
| Online Access: | https://acnr.co.uk/articles/rehabilitation-in-charcot-marie-tooth-disease-type-1/ |
| _version_ | 1818206703710109696 |
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| author | Manoj Mannil Chandini Kadian Elisabeth Futterlieb Michael W Sereda |
| author_facet | Manoj Mannil Chandini Kadian Elisabeth Futterlieb Michael W Sereda |
| author_sort | Manoj Mannil |
| collection | DOAJ |
| description | Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy with a prevalence of approximately 1 in 2,500 [1]. The most common subtype is the autosomal dominant type 1A, which is caused by an intrachromosomal duplication on chromosome 17p11.2 [2,3]. A consecutive primary loss of the myelin sheath leads to secondary axonal degeneration. Characteristic clinical findings include distally pronounced muscle wasting, secondary skeletal deformities, sensory loss, and reduced deep tendon reflexes [4,5]. The individual clinical phenotypes vary, even among monozygotic twins [6]. They range from sub-clinical manifestations to rare cases of wheelchair-bound patients. Overall, the quality of life is significantly impaired [7]. |
| first_indexed | 2024-12-12T04:17:15Z |
| format | Article |
| id | doaj.art-8e783d08e52840baa810f8039fc00366 |
| institution | Directory Open Access Journal |
| issn | 1473-9348 2397-267X |
| language | English |
| last_indexed | 2024-12-12T04:17:15Z |
| publishDate | 2014-09-01 |
| publisher | Whitehouse Publishing |
| record_format | Article |
| series | Advances in Clinical Neuroscience & Rehabilitation |
| spelling | doaj.art-8e783d08e52840baa810f8039fc003662022-12-22T00:38:25ZengWhitehouse PublishingAdvances in Clinical Neuroscience & Rehabilitation1473-93482397-267X2014-09-0110.47795/MMVG6026Rehabilitation in Charcot-Marie-Tooth disease type 1Manoj Mannil0Chandini Kadian1Elisabeth Futterlieb2Michael W Sereda3ResearcherPostdoctoral Research FellowResearcherConsultantCharcot-Marie-Tooth disease is the most common inherited peripheral neuropathy with a prevalence of approximately 1 in 2,500 [1]. The most common subtype is the autosomal dominant type 1A, which is caused by an intrachromosomal duplication on chromosome 17p11.2 [2,3]. A consecutive primary loss of the myelin sheath leads to secondary axonal degeneration. Characteristic clinical findings include distally pronounced muscle wasting, secondary skeletal deformities, sensory loss, and reduced deep tendon reflexes [4,5]. The individual clinical phenotypes vary, even among monozygotic twins [6]. They range from sub-clinical manifestations to rare cases of wheelchair-bound patients. Overall, the quality of life is significantly impaired [7].https://acnr.co.uk/articles/rehabilitation-in-charcot-marie-tooth-disease-type-1/ |
| spellingShingle | Manoj Mannil Chandini Kadian Elisabeth Futterlieb Michael W Sereda Rehabilitation in Charcot-Marie-Tooth disease type 1 Advances in Clinical Neuroscience & Rehabilitation |
| title | Rehabilitation in Charcot-Marie-Tooth disease type 1 |
| title_full | Rehabilitation in Charcot-Marie-Tooth disease type 1 |
| title_fullStr | Rehabilitation in Charcot-Marie-Tooth disease type 1 |
| title_full_unstemmed | Rehabilitation in Charcot-Marie-Tooth disease type 1 |
| title_short | Rehabilitation in Charcot-Marie-Tooth disease type 1 |
| title_sort | rehabilitation in charcot marie tooth disease type 1 |
| url | https://acnr.co.uk/articles/rehabilitation-in-charcot-marie-tooth-disease-type-1/ |
| work_keys_str_mv | AT manojmannil rehabilitationincharcotmarietoothdiseasetype1 AT chandinikadian rehabilitationincharcotmarietoothdiseasetype1 AT elisabethfutterlieb rehabilitationincharcotmarietoothdiseasetype1 AT michaelwsereda rehabilitationincharcotmarietoothdiseasetype1 |