Charcot–Marie–Tooth disease: Genetics, epidemiology and complications
Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience consi...
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ftshahrekordunms:oai:eprints.skums.ac.ir:638 2023-05-15T16:51:16+02:00 Charcot–Marie–Tooth disease: Genetics, epidemiology and complications Pourhadi, Masoumeh. Ahmadinejad, Fereshteh. Maghsoudi, Reza. Jami, Mohammad-Saeid. 2017 text http://eprints.skums.ac.ir/638/ http://eprints.skums.ac.ir/638/1/83.pdf http://ijer.skums.ac.ir/article_22541.html en eng http://eprints.skums.ac.ir/638/1/83.pdf Pourhadi, Masoumeh. and Ahmadinejad, Fereshteh. and Maghsoudi, Reza. and Jami, Mohammad-Saeid. (2017) Charcot–Marie–Tooth disease: Genetics, epidemiology and complications. International Journal of Epidemiologic Research, 4 (1). pp. 78-83. WL Nervous system Article PeerReviewed 2017 ftshahrekordunms 2021-06-17T15:18:53Z Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this work it was aimed to provide a review on the genetic and epidemiologic aspects of this disease. Methods: In the current review article, we performed a literature search on the epidemiology of Charcot–Marie–Tooth disease” and provided a brief review on epidemiology, genetic, and complications of CMT. Databases Web of Science and PubMed were searched using the Endnote software for the publications on CMT during 2000 to 2016. Results: Charcot Marie Tooth disease has different prevalence around the world and is the most common neuropathy. Epidemiological studies have estimated the prevalence of CMT in Japan 1/9200, in Iceland 1/8300, in Spain 1/3500 and in Italy 1/5700.The patients have different phenotype and the age of onset. There is a variety of inherited patterns of disease and many genes have been identified responsible whose mutations are main cause of the disease. Conclusion: Due to the impact of this kind of disabilities on the national health, further studies seem to be necessary to gain better knowledge of the disease particularly in the regions with higher prevalence. Moreover molecular biology services offered by genetic laboratories can reduce the incidence of disorder. Article in Journal/Newspaper Iceland Shahrekord University Of Medical Sciences: Research information management system Charcot ENVELOPE(139.017,139.017,-69.367,-69.367) |
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Shahrekord University Of Medical Sciences: Research information management system |
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ftshahrekordunms |
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English |
topic |
WL Nervous system |
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WL Nervous system Pourhadi, Masoumeh. Ahmadinejad, Fereshteh. Maghsoudi, Reza. Jami, Mohammad-Saeid. Charcot–Marie–Tooth disease: Genetics, epidemiology and complications |
topic_facet |
WL Nervous system |
description |
Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this work it was aimed to provide a review on the genetic and epidemiologic aspects of this disease. Methods: In the current review article, we performed a literature search on the epidemiology of Charcot–Marie–Tooth disease” and provided a brief review on epidemiology, genetic, and complications of CMT. Databases Web of Science and PubMed were searched using the Endnote software for the publications on CMT during 2000 to 2016. Results: Charcot Marie Tooth disease has different prevalence around the world and is the most common neuropathy. Epidemiological studies have estimated the prevalence of CMT in Japan 1/9200, in Iceland 1/8300, in Spain 1/3500 and in Italy 1/5700.The patients have different phenotype and the age of onset. There is a variety of inherited patterns of disease and many genes have been identified responsible whose mutations are main cause of the disease. Conclusion: Due to the impact of this kind of disabilities on the national health, further studies seem to be necessary to gain better knowledge of the disease particularly in the regions with higher prevalence. Moreover molecular biology services offered by genetic laboratories can reduce the incidence of disorder. |
format |
Article in Journal/Newspaper |
author |
Pourhadi, Masoumeh. Ahmadinejad, Fereshteh. Maghsoudi, Reza. Jami, Mohammad-Saeid. |
author_facet |
Pourhadi, Masoumeh. Ahmadinejad, Fereshteh. Maghsoudi, Reza. Jami, Mohammad-Saeid. |
author_sort |
Pourhadi, Masoumeh. |
title |
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications |
title_short |
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications |
title_full |
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications |
title_fullStr |
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications |
title_full_unstemmed |
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications |
title_sort |
charcot–marie–tooth disease: genetics, epidemiology and complications |
publishDate |
2017 |
url |
http://eprints.skums.ac.ir/638/ http://eprints.skums.ac.ir/638/1/83.pdf http://ijer.skums.ac.ir/article_22541.html |
long_lat |
ENVELOPE(139.017,139.017,-69.367,-69.367) |
geographic |
Charcot |
geographic_facet |
Charcot |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://eprints.skums.ac.ir/638/1/83.pdf Pourhadi, Masoumeh. and Ahmadinejad, Fereshteh. and Maghsoudi, Reza. and Jami, Mohammad-Saeid. (2017) Charcot–Marie–Tooth disease: Genetics, epidemiology and complications. International Journal of Epidemiologic Research, 4 (1). pp. 78-83. |
_version_ |
1766041386871685120 |