Materiały źródłowe

• #1 Charcot-Marie-Tooth Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562163/

  CMT is a clinically and genetically heterogeneous neuropathic disorder that occurs worldwide and affects individuals from all ethnic groups. Overall, CMT has an estimated frequency of 1 in 2500 people. […] Epidemiological data from adult neuropathy clinics indicate that CMT is more common than inflammatory or paraneoplastic neuropathies. […] The prevalence of CMT ranges from 9.7 per 100,000 population in Serbia to 82.3 per 100,000 population in Norway. […] Published studies vary in quality and methodology, making it challenging to accurately assess the true prevalence of CMT due to the diverse clinical symptoms and presentations of the disease. […] This variability is evident in older population-based surveys, which reported a wide range of CMT frequencies, from 8 per 100,000 individuals in Libya to 28 per 100,000 individuals in northern Spain.

• #2 Charcot-Marie-Tooth Disease: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/315260-overview

  The prevalence of CMT disease is 1 person per 2500 population, or about 125,000 people in the United States. The incidence of CMT 1 is 15 persons per 100,000 population; the incidence of CMT 1A is 10.5 persons per 100,000 population, or 70% of CMT 1. The incidence of CMT 2 is 7 persons per 100,000 population. Persons with CMT X represent at least 10-20% of people with the CMT syndrome. […] In Japan, the prevalence is reported to be 10.8 cases per 100,000 population; in Italy, it is reported to be 17.5 cases per 100,000 population; and in Spain, it is 28.2 cases per 100,000 population. According to a Norwegian genetic epidemiologic study, CMT disease is the most common inherited disorder of the peripheral nervous system, with an estimated prevalence of 1 in 1214. CMT 1 and CMT 2 are equally frequent in the general population. The prevalence of PMP22 duplication and of mutations in Cx32, MPZ, and MFN2 is 19.6%, 4.8%, 1.1% and 3.2%, respectively. The ratio of probable de-novo mutations in CMT families was estimated to be 22.7%. Genotype-phenotype correlations for seven novel mutations in the genes Cx32 (2), MFN2 (3) and MPZ (2) are described.

• #3 Charcot-Marie-Tooth Disease – EyeWiki

  https://eyewiki.org/Charcot-Marie-Tooth_Disease

  Affecting an estimated 126,000 Americans and 2.6 million individuals across the world, CMT is the most common genetically transmissible neuromuscular disorder. […] In the European Union, CMT has a prevalence of 1 in 2,500 individuals, though prevalence varies between populations and geographical regions. […] The inconsistencies in CMT prevalence can be explained by difficulties identifying, subtyping and assessing CMT due to its varying clinical presentation. […] The majority of studies employ genetic testing to detect a duplicated chromosome 17p11.2.

• #4 Charcot-Marie-Tooth disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/

  Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 3,300 individuals. […] Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016;46(3):157-65. doi: 10.1159/000443706. Epub 2016 Feb 6. Citation on PubMed

• #5 Charcot-Marie-Tooth (CMT) Disease | Sarepta Therapeutics

  https://www.sarepta.com/disease-areas/charcot-marie-tooth-disease

  CMT is one of the most common inherited neurological disorders, affecting approximately 1 in 3,300 people worldwide. […] The disease is one of the most common inherited neurological disorders, affecting approximately 1 in 3,300 people worldwide.

• #6 Epidemiology of Charcot-Marie-Tooth disease in the population of Belgrade, Serbia

  https://repub.eur.nl/pub/62649

  The aim of this study was to determine prevalence and 15-year survival in Charcot-Marie-Tooth disease (CMT). […] We registered 161 patients with CMT in the population of Belgrade. The crude prevalence of CMT disease in the Belgrade population on 31 December 2007 was 9.7/100,000 for all subtypes, 7.1/100,000 for CMT1, and 2.3/100,000 for CMT2. Gender-specific prevalence was 11.2/100,000 for males and 8.3/100,000 for females. The highest age-specific prevalence was registered in the oldest age group (75+ years; 19.1/100,000), and the lowest one in patients aged 5-14 years (5.0/100,000). The cumulative probability of 15-year survival for CMT patients in Belgrade was 85.6 7.8% (44.9 31.8% for males and 98.2 1.8% for females). […] The prevalence of CMT found in Belgrade is similar to the prevalence registered in Southern European countries.

• #7 Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. – Document – Gale Academic OneFile

  https://go.gale.com/ps/i.do?id=GALE%7CA637316820&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=02515350&p=AONE&sw=w

  Abstract : Background: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. […] The objectives of this study were to systematically review and assess the quality of studies reporting the incidence and/or prevalence of CMT worldwide. […] CMT prevalence was reported in 10 studies and ranged from 9.7/100,000 in Serbia to 82.3/100,000 in Norway. […] This review reveals the gaps that still exist in the epidemiological knowledge of CMT around the world. […] Additional research focusing on epidemiological features of CMT in different nations and different ethnic groups is needed.

• #8 Charcot-Marie-Tooth disease in Denmark: a nationwide register-based study of mortality, prevalence and incidence | BMJ Open

  https://bmjopen.bmj.com/content/7/11/e018048

  Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system, yet no studies have compared the mortality in patients with CMT with that of the general population, and prevalence estimates vary considerably. We performed a nationwide register-based study to investigate the prevalence, incidence and mortality of CMT in Denmark. […] The prevalence proportion was 22.5 per 100000 (95% CI 21.2 to 23.7) and the incidence rate was 0.98 (95% CI 0.93 to 1.04) per 100000 person-years. The SMR was 1.36 (95% CI 1.21 to 1.53), and the AER was 4.87 per 1000 person-years (95%CI 2.77 to 6.96). […] We found a reduced life expectancy among patients diagnosed with CMT. To our knowledge, this is the first study of CMT to use nationwide register-based data, and the first to report an SMR and an AER.

• #9 Charcot-Marie-Tooth disease in Denmark: a nationwide register-based study of mortality, prevalence and incidence | BMJ Open

  https://bmjopen.bmj.com/content/7/11/e018048

  The aim of this study was to perform a nationwide register-based study of the prevalence, incidence and mortality of CMT in Denmark, using data from the Danish National Patients Registry (DNPR), which is considered one of the finest national health registers in the world. […] A total of 1258 patients with a CMT diagnosis were alive by 31 December 2012 among 5 602 628 residents in Denmark, corresponding to a prevalence proportion of 22.5 per 100000 (95% CI 21.2 to 23.7). […] The overall incidence rate was 0.98 per 100000 person-years (95%CI 0.93 to 1.04), 1.12 per 100000 person-years (95%CI 1.05 to 1.21) for men and 0.85 per 100000 person-years (95%CI 0.78 to 0.92) for women. […] We report a 36% higher mortality among patients diagnosed with CMT as compared with the general population. We found a prevalence of 22.5 per 100000 and a more than fourfold increase in the incidence from 1988 to 2012.

• #10 Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease | Neurología (English Edition)

  https://www.elsevier.es/en-revista-neurologia-english-edition–495-articulo-guidelines-for-molecular-diagnosis-charcot-marie-tooth-S2173580812000417

  Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: CMT1 (autosomal dominant [AD] or X-linked transmission and MCV38m/s); CMT2 (AD or X-linked transmission and MCV38m/s); CMT4 (autosomal recessive [AR] and severe slowing of MCV); AR-CMT2 (AR transmission and MCV38m/s); and DI-CMT (intermediate form with AD transmission and MCV between 30 and 40m/s). […] This paper is aimed at performing a nosological review of the disease, emphasising the guidelines for its molecular diagnosis. Genetic epidemiological studies and genotypes reported in Spanish patients are revised. […] Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a prevalence in Spain of 28.2 cases per 100000 inhabitants.

• #11 Charcot-Marie-Tooth Disease, molecular epidemiology in Northern Ostrobothnia | University of Oulu

  https://www.oulu.fi/en/theses/charcot-marie-tooth-disease-molecular-epidemiology-northern-ostrobothnia

  Charcot-Marie-Tooth (CMT) disease is probably the most common inherited neuromuscular disorder in the world. […] The aim of this study was to investigate the molecular epidemiology of CMT in Northern Ostrobothnia, and to evaluate patients with pathogenic variants in GDAP1 and MPZ genes. […] We found 107 patients with CMT, suggesting a prevalence 34.6/100,000 in Northern Ostrobothnia. […] Prevalence of CMT in Northern Ostrobothnia appears to be two-fold higher than the average in European populations. […] One reason could be the high portion of patients with the pathogenic variant in GDAP1-gene.

• #12 PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-9-38

  Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. […] Several more recent epidemiological studies reported prevalences of CMT ranging from 1:1,214 (in Norway) to 1:6,500 (in the United Kingdom). […] Epidemiological studies show that 19.6% to 64.7% of CMT patients carry the PMP22 duplication, which gives calculated prevalences of CMT1A in the range of 1:3,800 to 1:12,500. […] The prevalence of HNPP is not well known. Prevalences of 7.3 per 100,000 to 16 per 100,000 are reported.

• #13 Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6585838/

  This population-based study aimed to determine age-standardised prevalence of Charcot-Marie-Tooth disease (CMT) across the lifespan using multiple case ascertainment sources. […] Point-prevalence epidemiological study in the Auckland Region of New Zealand (NZ). […] Multiple case ascertainment sources including primary care centres, hospital services, neuromuscular disease registry, community-based organisations and self-referral were used to identify potentially eligible participants. […] Prevalence per 100000 persons with 95% CIs by subtype, age and sex were calculated and standardised to the world population. […] Age-standardised point prevalence of all CMT cases was 15.7 per 100000 (95% CI 11.6 to 21.0). […] A small but significant proportion of people with CMT are not connected to healthcare services. Epidemiological studies using medical records alone to identify cases may risk underestimating prevalence. Further studies using population-based methods and reporting age-standardised prevalence are needed to improve global understanding of the epidemiology of CMT.

• #14 Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6585838/

  The use of multiple sources of case ascertainment reduces potential influence of selection bias. […] Presentation of age-standardised prevalence enables comparison of prevalence across different countries, important in understanding the global burden and population trends. […] Accurate prevalence data are important to inform healthcare service planning and resourcing as well as to provide an indication of the scope of societal burden. […] The overall crude point prevalence in Auckland, NZ on the point prevalence date was 16.7 per 100000 (95% CI 14.6 to 19.0). […] After age adjustment according to the world standard population (to account for international population differences), prevalence of CMT was 15.7 per 100 000 (95% CI 11.6 to 21.0). […] Age-standardised prevalence is important to take country specific population differences (eg, an older or younger population) into account to ensure data are comparable.

• #15 Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study | BMJ Open

  https://bmjopen.bmj.com/content/9/6/e029240

  Objectives This population-based study aimed to determine age-standardised prevalence of Charcot-Marie-Tooth disease (CMT) across the lifespan using multiple case ascertainment sources. […] Primary outcome Prevalence per 100000 persons with 95% CIs by subtype, age and sex were calculated and standardised to the world population. […] Age-standardised point prevalence of all CMT cases was 15.7 per 100000 (95% CI 11.6 to 21.0). […] A small but significant proportion of people with CMT are not connected to healthcare services. Epidemiological studies using medical records alone to identify cases may risk underestimating prevalence. Further studies using population-based methods and reporting age-standardised prevalence are needed to improve global understanding of the epidemiology of CMT.

• #16 Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study | BMJ Open

  https://bmjopen.bmj.com/content/9/6/e029240

  This study using multiple case ascertainment sources and presenting age-standardised data reveals 15.7 per 100000 people are affected by CMT in Auckland, the largest region of NZ. Community case ascertainment sources were critical to the accuracy of prevalence findings, with 6.8% of cases uniquely identified through the community or the national neuromuscular disease registry. […] Age-standardised prevalence is important to take country specific population differences (eg, an older or younger population) into account to ensure data are comparable. […] Less than half (41.9%) of participants had received a molecular confirmation of diagnosis. […] The low number of child cases identified in this study highlights the need for earlier identification and testing of potentially affected children. […] While this study has provided the most comprehensive case ascertainment procedure conducted to date to determine CMT prevalence, it is still likely that some cases of CMT were missed. Consequently, prevalence may still be an underestimate, particularly given the low prevalence in children.

• #17 Charcot-Marie-Tooth Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562163/

  Based on median motor nerve conduction velocity (NCV), CMT is broadly categorized into demyelinating (CMT1) and axonal (CMT2) types. The frequency ranges from 37.5% to 84% for CMT1 and 12% to 35.9% for CMT2. However, prevalence studies focusing solely on CMT2 are rare, making the identification of affected individuals and families more challenging.

• #18 Orphanet: Charcot-Marie-Tooth disease type 1

  https://www.orpha.net/en/disease/detail/65753

  Prevalence: 1-5 / 10 000. […] The prevalence of CMT1 is estimated to be between 1/7,000 and 1/5,000, with CMT1A representing 70% of cases. […] Diagnosis of CMT1 is based on progressive peripheral motor and sensory neuropathy; slow nerve conduction velocity (NCV) with motor NCV de novo mutations). Genetic testing is the gold standard for diagnosis. […] Transmission is autosomal dominant with complete penetrance and genetic counseling is recommended. […] CMT1 is slowly progressive and affected individuals experience long plateau periods without obvious deterioration. Most patients remain ambulatory throughout life and have a normal lifespan.

• #19

  https://karger.figshare.com/articles/dataset/Erratum_Epidemiologic_Study_of_Charcot-Marie-Tooth_Disease_A_Systematic_Review/5241928

  Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. The objectives of this study were to systematically review and assess the quality of studies reporting the incidence and/or prevalence of CMT worldwide. CMT prevalence was reported in 10 studies and ranged from 9.7/100,000 in Serbia to 82.3/100,000 in Norway. The frequency of the main subtypes varied from 37.6 to 84% for CMT1 and from 12 to 35.9% for CMT2; the country with the lowest prevalence of CMT1 was Norway, and the country with the highest prevalence of CMT1 was Iceland; on the other hand, CMT2 was least prevalent in the United Kingdom and most prevalent in Norway. This review reveals the gaps that still exist in the epidemiological knowledge of CMT around the world. Additional research focusing on epidemiological features of CMT in different nations and different ethnic groups is needed.

• #20 A Commentary on Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan | Journal of Human Genetics

  https://www.nature.com/articles/jhg201132

  CMT is indeed the most common inherited peripheral neuropathy. Whereas the prevalence is estimated at one patient per 2500 population in Europe and the United States, the precise prevalence in Japan still remains unexplored. […] This clinical approach will therefore help in framing the precise prevalence and molecular epidemiology of CMT in Japan. […] They also highlighted two epidemiological features in the Japanese population that are distinct from those of the Caucasian population: lower prevalence of duplication of PMP22 in the demyelinating CMT and more cases in which no causative genes were identified despite an extensive search on the representative CMT genes. […] Indeed, a genetic study is essential to identify the causative gene for CMT, to clarify the molecular mechanism of CMT and to pursue the development of novel treatment strategies. […] In addition, a molecular epidemiological study of CMT in Asian countries including Korea and China, where Japanese lineage may encroach, is needed, so as to provide more insight into the genetic background of the low prevalence of PMP22 duplication in Japan.

• #21 Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6585838/

  The findings may also reflect that parents may perceive little benefit in seeking early medical review if the condition is known within the family or delays within the health system in arranging for diagnostic tests. […] The low number of child cases identified in this study highlights the need for earlier identification and testing of potentially affected children. […] Age-standardised point prevalence of all CMT cases was 15.7 per 100000 with higher prevalence in males than females. A small proportion of cases were uniquely identified through community-based sources of case ascertainment.

• #22 Charcot-Marie-Tooth Syndrome | Doctor

  https://patient.info/doctor/charcot-marie-tooth-disease

  It is the most common inherited neuromuscular disorder affecting 1 in 2,500 people.1 […] It has no predilection for a particular race or sex. […] Exact prevalence is difficult to assess due to diverse presentations of disease. Studies show variation in prevalence from 9.7 per 100,000 to 82.3 per 100,000.3

• #23 Charcot-Marie-Tooth Disease Causes, Symptoms, Treatment | HSS

  https://www.hss.edu/condition-list_charcot-marie-tooth-disease.asp

  Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is the most common hereditary neuropathy. It is slightly more common in females than males and usually autosomal dominant in inheritance. This means that a copy of the mutated gene may be inherited from either a single parent or from both parents. […] CMT is the most common hereditary neuropathy and affects approximately 10 to 82 of 100,000 individuals. It is slightly more common in females (about one in 1,130) than in males (one in 1,313). […] Charcot-Marie-Tooth disease is diagnosed through a combination of a detailed family history, physical examination, nerve studies, and genetic testing. Rarely, a nerve biopsy is needed to confirm the diagnosis. […] At Hospital for Special Surgery, the pediatric orthopedic surgeons work closely with physiatrists, physical therapists, and orthotists to ensure our patients with CMT disease have optimal, pain free function and mobility.

• #24 A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Re | CLEP

  https://www.dovepress.com/a-search-for-undiagnosed-charcot-marie-tooth-disease-among-patients-re-peer-reviewed-fulltext-article-CLEP

  In a recent study based on data from the Danish National Patients Registry (DNPR), we reported the prevalence of Charcot-Marie-Tooth disease (CMT) in Denmark to be 22.5 per 100.000. This prevalence is most likely a minimum estimate, as many cases of CMT may be misdiagnosed or remain undiagnosed due to the heterogeneous nature of the disorder. […] The aim of the present study was to investigate whether the prevalence of CMT in Denmark is higher than previously reported by estimating the proportion of possible CMT cases among patients diagnosed with unspecified polyneuropathy (UP) diagnoses in the DNPR. […] This study illustrates how hitherto undiagnosed CMT patients may be identified in the DNPR and further reports the number of possible CMT cases. Our results support the hypothesis that the true prevalence of CMT is higher than recently reported.

• #25 A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Re | CLEP

  https://www.dovepress.com/a-search-for-undiagnosed-charcot-marie-tooth-disease-among-patients-re-peer-reviewed-fulltext-article-CLEP

  Our study shows that a considerable number of patients may have CMT but remain undiagnosed, and confirms that the previously reported prevalence of CMT is probably underestimated. […] The main finding of this study is that 21.5% (95% CI 13.1%32.2%) of a selected cohort of patients diagnosed with UP may have undiagnosed CMT. This supports our hypothesis; that using only CMT diagnoses from the DNPR will lead to an underestimation of the prevalence of CMT in Denmark. […] In a selected group of patients diagnosed with an unspecified polyneuropathy diagnosis in the DNPR, we found that 21.5% could have undiagnosed CMT. This corresponds to an increase in the prevalence of CMT in Denmark with 3.6 per 100,000 (95% CI 2.4%-5.5%): from 22.5 per 100,000 (95% CI 21.2%-23.7%) as reported previously to 26.1 per 100,000 (95% CI 24.1%-28.0%). This study supports the hypothesis, that many patients with CMT are undiagnosed.

• #26 Charcot-Marie-Tooth disease | Revista Médica Clínica Las Condes

  https://www.elsevier.es/es-revista-revista-medica-clinica-las-condes-202-articulo-charcot-marie-tooth-disease-S0716864018301068

  CMT corresponde a la forma más común de condiciones hereditarias dentro de las enfermedades neuromusculares, con una prevalencia general de 1 en cada 2,500 individuos. […] En los últimos años, varios estudios epidemiológicos han descrito la prevalencia de formas específicas de CMT en centros especializados y en la población general. CMT1 variantes representan aproximadamente la mitad de los casos diagnosticados, con mutaciones en los genes PMP22 (CMT1A), MPZ (CMT1B), GJB1 (CMTX1) y MFN2 (CMT2A2) responsables del 90% de las formas molecularmente confirmadas. […] Sin embargo, en un porcentaje de individuos estudiados, no se logra la confirmación molecular, lo que demuestra que otros genes que causan CMT aún requieren identificación.

• #27 SciELO Brazil – Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives

  https://www.scielo.br/j/anp/a/vDnjDhXfBwNVzxhpkqwm37D/

  Hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease (CMT), traditionally refers to a group of genetic disorders in which neuropathy is the main or sole feature. Its prevalence varies according to different populations studied, with an estimate between 1:2,500 to 1:10,000. […] According to previously studies, the estimated prevalence of CMT ranges from 1:2,500 to 1:10,000 and its phenotypic presentation is characterized by slowly progressive motor and sensory symptoms, ranging from early onset severe forms to milder cases with onset in adulthood. […] Another crucial point is that despite the use of innovative technologies, a significant percentage of patients with CMT and other hereditary neuropathies remains without a confirmatory molecular diagnosis. […] In 2013, Pasnoor et al., in a collaborative North America and South America epidemiological study on the frequency of several types of neuropathies between the University of Kansas Medical Center, University of Texas Southwestern Medical Center, and Universidade Federal Fluminense, found that CMT accounted for 5.80% of neuropathy cases in the Brazilian center.

• #28 Charcot-Marie-Tooth Disease (CMT) Network: CMT-NET – WMS

  https://www.worldmusclesociety.org/m/organisation/a67daa4e-8b09-4d02-b1f8-917dbb870005/Charcot-Marie-Tooth-Disease-CMT-Network-CMT-NET

  CMT-NET is an interdisciplinary German network with the intention of bringing together experts from different areas of research to collaborate on the molecular pathogenesis, epidemiology, diagnosis, and treatment of CMT. […] What is the disease burden of CMT patients in Germany at different disease stages? […] CMT-NET aims (i) to examine mechanisms of the disturbed axon-glia-interaction and neuronal vulnerability in CMT1A using transgenic fly, chick, mouse and rat approaches […] (ii) to identify genetic modifiers and non-genetic risk factors in CMT […] (iv) to identify and validate outcome measures in children and adults with CMT, including biomarkers from blood […] (vi) to establish an internationally harmonised CMT patient registry.

• #29 Top Published Expert Doctors for Charcot-Marie-Tooth Disease

  https://findexpertmd.com/d/Charcot-Marie-Tooth_Disease

  622 top medical experts on Charcot-Marie-Tooth Disease across 48 countries and 31 U.S. states, including 499 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants. […] Clinical Trials ClinicalTrials.gov : at least 79 including 4 Active, 36 Completed, 17 Recruiting.

• #30 Charcot-Marie-Tooth Disease Market Size, Share, Forecast 2034

  https://www.imarcgroup.com/charcot-marie-tooth-market

  The Charcot-Marie-Tooth disease market has been comprehensively analyzed in IMARC’s new report titled „Charcot-Marie-Tooth Disease Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034.” […] The rising prevalence of genetic disorders and the increasing unmet medical need for novel therapies that can halt or slow the progression of the ailment are primarily driving the Charcot-Marie-Tooth disease market. […] IMARC Group’s new report provides an exhaustive analysis of the Charcot-Marie-Tooth disease market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc.

• #31 Charcot Marie Tooth Disease Therapeutic Market Size Expected to Expand at a CAGR of 25.42% for the Study Period 2018-2030 | DelveInsight

  https://www.prnewswire.com/news-releases/charcot-marie-tooth-disease-therapeutic-market-size-expected-to-expand-at-a-cagr-of-25-42-for-the-study-period-20182030–delveinsight-301368313.html

  As per DelveInsight’s estimate, the total Charcot Marie Tooth Disease prevalent population in the 7MM was 263,835 in 2020, which is further expected to increase throughout the study period, i.e., 2018-2030. […] The Charcot Marie Tooth Disease epidemiological analysis depicted that males have a higher predisposition to CMT as compared to females because X-linked genetic disorders are conditions caused by a non-working gene on the X chromosome and manifest mostly in males. […] DelveInsight’s Charcot Marie Tooth Disease Market Insights Report offers historical as well as forecasted epidemiological analysis during the study period 2018-30 in the 7MM segmented into: Total Charcot Marie Tooth Disease Prevalent Cases, Total Diagnosed Charcot Marie Tooth Disease Prevalent Cases, Gender-specific Diagnosed Charcot Marie Tooth Disease Cases, Type-specific Diagnosed Charcot Marie Tooth Disease Cases, Age-specific Diagnosed Charcot Marie Tooth Disease Cases.

• #32 Charcot Marie Tooth Disease Therapeutic Market Size Expected to Expand at a CAGR of 25.42% for the Study Period 2018-2030 | DelveInsight

  https://www.prnewswire.com/news-releases/charcot-marie-tooth-disease-therapeutic-market-size-expected-to-expand-at-a-cagr-of-25-42-for-the-study-period-20182030–delveinsight-301368313.html

  Understand how Charcot Marie Tooth Disease Epidemiological Trends are going to shape by 2030 in 7 Major Markets by downloading @ Charcot Marie Tooth Disease Epidemiology Market Report Summary. […] The USA accounted for the majority of the CMT Disease prevalent cases in 2020, nearly accounting for 51% of the total 7MM.

• #33 Health Professionals – Charcot-Marie-Tooth UK

  https://www.cmt.org.uk/health-professionals/

  CMT (Charcot-Marie-Tooth) disease is a heterogeneous group of inherited peripheral neuropathies in which the neuropathy is the sole or primary component of the disorder. […] It is the most common inherited neuromuscular disorder affecting 1 in 2,500 people. […] It has no predilection for a particular race or sex. […] Conditions linked to CMT with comparable symptoms include: HNPP Hereditary Neuropathy with Liability to Pressure Palsies, GAN Giant Axonal Neuropathy.

• #34 Charcot–Marie–Tooth disease: Genetics, epidemiology and complications

  https://ehsj.skums.ac.ir/Article/IJER-1606-1134

  Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. […] The prevalence of CMT and involved genes differ in different countries. […] 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. […] 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.

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