Materiały źródłowe

• #1 Congenital myasthenic syndromes | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1025-5

  Currently, mutations in 32 genes are made responsible for autosomal dominant or autosomal recessive CMSs. […] According to a recent review, the prevalence of CMS is estimated as 1/10 that of myasthenia gravis, which is 25125/1000000. […] In a recent study on the frequency of autoimmune myasthenia and genetic myasthenia in patients under 18y of age, the prevalence of CMS in Great Britain was calculated as 9.2/1000000 but varies considerably between the regions between 2.8 and 14.8/1000000. […] Most likely, these prevalence figures are underestimations because CMS may go undetected if mixed up with one of the many differential diagnoses or if manifesting only with mild symptoms. […] In several regions worldwide local increases of certain mutations have been detected. […] The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1.

• #2 The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9886627/

  Twenty-eight cases with genetically confirmed CMS were identified, corresponding to an overall prevalence of 3.1 per million (95% CI 2.04.3) in Austria. […] CMS are rare with only few prevalence estimates in the literature, ranging between 1.8 per million total population and 22.2 per million children. […] Epidemiological studies, however, probably underestimate the real prevalence of CMS due to the lack of large disease registries, limited access to NGS-based genetic testing in some countries and the misclassification of CMS as (seronegative) autoimmune myasthenia gravis. […] Patient recruitment covered all specialized pediatric and adult neuromuscular centers in Austria and thus enabled us to perform population-based calculations on CMS epidemiology, yielding a prevalence of 3.1 per million in the total population and 10.5 per million in the pediatric population. […] However, it is likely that existing epidemiological data rather underestimate the real number of affected patients.

• #3

  https://journals.lww.com/co-neurology/fulltext/2024/10000/congenital_myasthenic_syndromes__increasingly.9.aspx

  Congenital myasthenia syndromes (CMS) are treatable, inherited disorders affecting neuromuscular transmission. The prevalence reported varies considerably between regions, 2.8-14.8 per million (UK), 1.8 per million (Brazil), and 22.2 per million (Slovenia). […] The clinical use of next-generation sequencing greatly facilitates detection of mutations in larger genes, such as AGRN, LRP4, MUSK, COLQ, and thus increases in reported prevalence is likely to continue. […] The spectrum of CMS disorders is still expanding with multisystem involvement in many of the newly identified CMS-associated genes, particularly presynaptic gene defects. This has important implications on treatment strategies as the current CMS treatments are unlikely to affect the systemic symptoms.

• #4 Congenital Myasthenic Syndrome (CMS): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/congenital-myasthenic-syndrome

  The prevalence of congenital myasthenic syndrome isnt well known. One U.K. study estimated that CMS affects about 9 children (under age 18) per 1 million people. […] Congenital myasthenic syndrome complications may include: […] Anyone can develop congenital myasthenic syndrome. Youre more at risk if it runs in your biological family history. […] A healthcare provider will diagnose congenital myasthenic syndrome after a physical and neurological exam. […] Genetic testing helps your healthcare provider detect the gene change thats causing your symptoms. […] There isnt a cure for CMS, but treatment is available to help you manage your symptoms. […] Theres no known way to prevent congenital myasthenic syndrome. […] Congenital myasthenic syndrome symptoms range from mild to severe. […] Congenital myasthenic syndrome may or may not affect your life expectancy. […] Visit a healthcare provider if you or your child experience symptoms of congenital myasthenic syndrome when participating in physical activities, like muscle weakness.

• #5 157 The epidemiology of congenital myasthenic syndromes in Northern Ireland | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/83/3/e1.111

  16 cases of CMS were identified in the region giving a prevalence rate of 8.2 per million (95% CI 6.0 to 10.4) and an estimated incidence of 0.2 (95% CI 0.06 to 0.62) per million person-years. […] This is the first population-based description of these conditions.

• #6

  https://link.springer.com/article/10.1007/s00415-022-11440-0

  Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. […] CMS are rare with only few prevalence estimates in the literature, ranging between 1.8 per million total population and 22.2 per million children. […] Epidemiological studies, however, probably underestimate the real prevalence of CMS due to the lack of large disease registries, limited access to NGS-based genetic testing in some countries and the misclassification of CMS as (seronegative) autoimmune myasthenia gravis. […] Patient recruitment covered all specialized pediatric and adult neuromuscular centers in Austria and thus enabled us to perform population-based calculations on CMS epidemiology, yielding a prevalence of 3.1 per million in the total population and 10.5 per million in the pediatric population.

• #7 SciELO Brazil – Clinical and genetic basis of congenital myasthenic syndromes Clinical and genetic basis of congenital myasthenic syndromes

  https://www.scielo.br/j/anp/a/H4rKyTD8VDXhn4rswqQHmFH/?lang=en

  The prevalence of CMS is very difficult to estimate due to the clinical variability of cases and the fact that many cases have no specific etiologic diagnosis or are undiagnosed. […] A study in the UK estimated that the prevalence of CMS with a defined genetic diagnosis is approximately 9.2 cases per million children under 18 years old in the population. […] An important epidemiological profile on CMS was obtained in a study performed at the Mayo Clinic. Most cases occurred as a consequence of postsynaptic defects (68%), and basal lamina defects (13.7%), development and maintenance of the end plate defects (12.5%), pure presynaptic defects (5.9-8%) and congenital myopathies with secondary neuromuscular junction transmission defects (0.3%) also represent other rare congenital myasthenic syndromes. Thus, postsynaptic forms represent up to 75-80% of all CMS cases. […] In southern Brazil, in the state of Paran, a minimum prevalence of 0.18/100.000 of CMS is estimated.

• #8 Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies

  https://www.mdpi.com/2077-0383/12/9/3308

  Congenital myasthenic syndromes (CMSs) are a group of rare and heterogeneous neuromuscular junction disorders. Epidemiological data on CMS are scarce, but estimations set the total prevalence to around 3.2 cases per million of the total population in Spain and 9.2 cases per million of under 18 years of age in the UK, with a male predominance (2:1). However, these are most likely underestimations because of mild phenotypes that are missed or confused with one of the many differential diagnoses. A review estimated the prevalence of CMS as 1/10 of total myasthenia gravis cases, which would result in a total prevalence of 25–125 cases per million. […] The general clinical picture is defined by fatigable and fluctuating muscular weakness due to a defect in neuromuscular transmission, but the phenotypes vary significantly. The age of onset is generally in the first decade of life. Still, it sometimes presents in the second or third decade, with a wide range of severity, progression (progressive, fluctuating, or regressive), and patterns of muscular weakness, typically involving ocular, bulbar, and limb muscles. The diverse phenotypes and presentations of CMS lead to a broad differential diagnosis, which differs between the childhood-onset CMS and the adult-onset CMS. […] Diagnosing CMS is essential because symptomatic and stabilizing treatments are available which can significantly improve the quality of life of affected patients.

• #9 Congenital myasthenic syndromes – TREAT-NMD

  https://www.treat-nmd.org/resources-and-support/neuromuscular-disease-information/congenital-myasthenic-syndromes/

  Congenital myasthenic syndromes (CMS) is a rare condition with approximately 1 patient in 150,000 people world-wide. […] Obtaining an accurate genetic diagnosis is important to ensure correct treatment is given to patients and so that long-term outcomes can be predicted.

• #10 Congenital myasthenic syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome

  Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction. There are only 600 known family cases of this disorder and it is estimated that its overall frequency in the human population is 1 in 200,000. […] CMS is often difficult to diagnose because of a broad differential diagnosis and lack of specific laboratory findings. Identification of the underlying mutation is critical, as certain mutations lead to treatment-responsive conditions while others do not. […] As with other rare childhood neurological conditions, CMS is often difficult to diagnose because of a broad differential diagnosis and lack of specific laboratory findings. Identification of the underlying mutation is critical, as certain mutations lead to treatment-responsive conditions while others do not. This case serves to highlight the importance of WES as a diagnostic tool that will assist in proper diagnosis, and in some circumstances, allow for initiation of specific treatment.

• #11 Myasthenic Syndrome, Congenital, 2A, Slow-Channel – CAGS

  https://cags.org.ae/en/ctga-details/2429/myasthenic-syndrome-congenital-2a-slow-channel

  Congenital Myasthenic Syndrome 2A is a rare autosomal dominant disorder caused by heterozygous missense mutations in the CHRNB1 gene. […] While the exact incidence of this disease subtype is unknown, the incidence of Congenital Myasthenic Syndromes in general is reported to be between 1 and 9 in 1000000 births.

• #12 Congenital myasthenic syndromes | MedLink Neurology

  https://www.medlink.com/articles/congenital-myasthenic-syndromes

  There is no reliable information on the incidence and prevalence of congenital myasthenic syndromes. Patients with congenital myasthenic syndrome are observed less frequently than patients with autoimmune myasthenia gravis and are often misdiagnosed or go undiagnosed for several reasons: they can closely mimic other disorders; few physicians are familiar with congenital myasthenic syndrome; and the diagnosis of some congenital myasthenic syndromes requires specialized methods of investigation currently available only at few medical centers. Some congenital myasthenic syndromes are endemic in the Near East where closed communities and consanguineous marriages are relatively frequent (104; 83).

• #13

  https://journals.lww.com/co-neurology/fulltext/2019/10000/the_congenital_myasthenic_syndromes__expanding.8.aspx

  Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. […] The number of genes in which mutations may cause neuromuscular transmission defects has now passed 30. […] Due to the more widespread adoption of next-generation sequencing the number of different genes implicated in CMS continues to grow and is now greater than 30. […] In this review, we report on the expanding number of causative-genes in which mutations that underlie impaired neuromuscular transmission have been identified, we update on the growing phenotypic spectrum for both new and better established CMS subtypes, and review recent thinking on treatment strategies. […] The current repertoire of drugs for use in CMS includes as follows: Drugs that increase ACh release, such as potassium blockers (3,4-diaminopyridine); drugs that maintain high ACh concentrations within the synaptic cleft, such as AChE inhibitors (mainly pyridostigmine); 2-adrenergic receptor agonists (ephedrine, salbutamol); and ACh receptor (AChR) open-channel blockers (fluoxetine, quinidine).

• #14 Myasthenic Syndromes | PM&R KnowledgeNow

  https://now.aapmr.org/myasthenic-syndromes/

  CMS has an estimated total prevalence of 10 per million person cases. Approximately 35 causative genes and pathogenic mutations have been found with genetic testing and development of next generation sequencing. There is moderate phenotypic variability between the mutations with variability in onset age, pattern of weakness, severity, progression of disease over time, and treatment response. Most of the mutations are autosomal recessive, with few defined as autosomal dominant. There is an expected increase in risk if positive family history of CMS in another sibling. […] NMG is a rare, transient disorder, occurring in 10-15% of newborns born to mothers with autoimmune MG. Epidemiological data for NMG is scarce; likely due to underreporting with difficulty detecting in mildly affected infants. The risk of NMG in subsequent pregnancies for siblings in significantly higher. Mothers with autoimmune MG should plan to deliver at hospitals with intensive care for neonates. And women who have given birth to an NMG baby should be treated with regular cycles of IVIG or plasma exchange in future pregnancies to minimize antibody exposure.

• #15 Congenital myasthenic syndromes | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1025-5

  The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1. […] About 75% of the CMS cases are due to mutations in genes that encode different subunits of the acetylcholine receptor (CHRNA1, CHRNB1, CHRND, CHRNE) or proteins important to maintain the structure or function of the NMJ, such as MUSK, RAPSN or DOK7. […] The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1. […] In a study of 34 CMS families from Israel the genes most frequently mutated were RAPSN (n=13), COLQ (n=11), and CHRNE (n=7). […] The first case of a patient with CMS was reported in 1977 by Engel et al. […] The first mutation associated with CMS was reported in the CHRNE gene by Gomez et al. in 1995. […] The first molecular genetic defect resulting in a presynaptic congenital myasthenic syndrome has been reported by Ohno in 2001.

• #16 Diagnosing congenital myasthenic syndrome — Oxford Neuroscience

  https://www.neuroscience.ox.ac.uk/how-we-are-making-a-difference/diagnosing-congenital-myasthenic-syndrome

  Congenital myasthenic syndromes (CMS) are inherited diseases resulting in fatiguable muscle weakness. […] By the late early 2000s the genetic mutations giving rise to many cases had been discovered. […] DOK7 mutations were quickly confirmed in similar cases worldwide. They are now recognised as one of the commonest causes of CMS in the UK, responsible for around 21% of cases. […] Diagnostic testing for DOK7 mutations is now routine for patients with suspected CMS. […] A diagnostic service handling samples from the UK and Europe is provided by the Churchill Hospital and the Weatherall Institute of Molecular Medicine. […] In the UK approximately 100 samples a year are sent for DOK7 testing and prenatal testing is also provided if requested. […] Similar screening services have now been established across Europe and in the USA.

• #17 DOK7 congenital myasthenic syndrome: case series and review of literature | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03713-0

  Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7 CMS requires different treatment than other CMS types. […] DOK7 has one of the worst prognoses of CMS. […] DOK7 CMS requires different treatment than other CMS types, and patients generally respond very well to oral salbutamol. […] DOK7 CMS is one of the most common CMS subtypes. It is reported to occur in 10-18% of CMSs. The prevalence varies across geographical territories. […] For diagnosing CMS, a clinical tetrad can be defined as including fatigable weakness, prominent in ocular and other cranial muscles, childhood-onset, negative myasthenia gravis autoantibodies, and supportive electrophysiological data in the form of positive slow RNS or abnormal single fiber EMG.

• #18 Congenital myasthenic syndromes | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1025-5

  In a study of 64 CMS patients from Spain, CHRNE mutations were detected in 27% of the patients. […] In a study of 45 patients from 35 Israeli CMS families, CHRNE mutations were found in 7 kinships. […] In a study of 23 families with CMS from Maghreb countries, the founder mutation c.1293insG was found in 60% of these patients. […] The term CMS is misleading since not all CMS are congenital. […] CMSs are an increasingly recognised group of genetically transmitted defects, which usually respond favorably to drugs enhancing the neuromuscular transmission. […] CMSs need to be differentiated from neuromuscular disorders due to muscle or nerve dysfunction.

• #19 Congenital Myasthenic Syndromes Overview – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1168/

  The purpose of this overview is to: […] Review management of CMS following diagnosis: evaluations, treatment (based on genetic cause when possible) and surveillance; […] Regular surveillance of muscle strength and respiratory function is recommended, usually at least every six months in children and every 12 months in adults. […] Symptoms of nighttime hypoventilation should be considered. […] It is appropriate to evaluate apparently asymptomatic at-risk relatives of a proband in order to identify as early as possible those who would benefit from initiation of treatment and preventive measures especially newborns or young children, who could benefit from early treatment to prevent sudden respiratory failure. […] Evaluations can include: […] Molecular genetic testing if the pathogenic variant(s) in the family are known; […] Neurologic/neuropediatric examination and electrophysiologic testing (repetitive nerve stimulation) if the pathogenic variant(s) in the family are not known.

• #20

  https://link.springer.com/article/10.1007/s00415-017-8689-3

  Congenital myasthenic syndromes (CMS) are a group of disorders caused by mutations in genes encoding proteins responsible for the function and integrity of the neuromuscular junction (NMJ), resulting in impairment of the safety margin necessary for reliable neuromuscular transmission. […] A relatively large proportion of CMS-EA remains genetically undiagnosed, which suggests the existence of novel causative CMS genes which remain uncharacterised. […] Genetic diagnosis for these conditions is all the more imperative given that effective treatments may prevent these life-threatening crises, but treatment response varies depending on the genetic subtype. […] In our cohort, average diagnostic delay was substantial at 8 months. […] Given the likelihood of recurring episodes, the potential for psychomotor impairment due to secondary hypoxic brain damage, and the positive effect of available treatments, CMS-EA is an important diagnosis not to miss.

• #21 DOK7 congenital myasthenic syndrome: case series and review of literature | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03713-0

  In our study, the c.1124_1127dupTGCC variant is the most common; three patients had this variant. We strongly recommend that neurologists consider CMS in patients with these symptoms and a similar familial history. We recommend the prescription of salbutamol as the first-choice treatment option for DOK7 patients. […] We do not recommend trying pyridostigmine before genetic results due to its deteriorating effects and the problems that this drug generally causes for DOK7 patients.

• #22 Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center

  https://www.e-kjgm.org/journal/view.html?doi=10.5734/JGM.2020.17.2.73

  Our study suggested the importance of molecular diagnosis of CMS to warrant appropriate treatment. Due to the wide heterogeneity of clinical and genetic features, the diagnosis of CMS remains challenging even for experienced clinicians. […] The advent of NGS technologies opened a new era of molecular genetic diagnosis in various neuromuscular disorders. Since molecular diagnosis is crucial for the therapeutic decision making in CMS, it is important for clinicians to recognize clinical clues and confirm the genetic analysis earlier.

• #23 Diagnosing congenital myasthenic syndrome — Oxford Neuroscience

  https://www.neuroscience.ox.ac.uk/how-we-are-making-a-difference/diagnosing-congenital-myasthenic-syndrome

  As a result of the research by David Beeson and others in Oxford, the Department of Health set up a National Diagnostic and Advisory Service for CMS based at the John Radcliffe and Churchill Hospitals. […] A national outpatient service is provided at which patients are advised about the genetic basis of the condition and offered the most appropriate treatment.

• #24 Canadian Neuromuscular Disease Registry Launches New Congenital Myasthenic Syndrome Registry – News- NMD4C

  https://neuromuscularnetwork.ca/news/cndr-launches-new-cms-registry/

  Were delighted to announce that a new registry for patients with congenital myasthenic syndrome (CMS) has just been launched within the Canadian Neuromuscular Disease Registry (CNDR). […] The prevalence of CMS in populations under 18 years was measured to be between 2.8 and 14.8 per million children in a UK-based prevalence study. […] By registering all patients across Canada, including those who have the clinical hallmarks of CMS but dont yet have a genetic diagnosis, the aim of this registry is to improve access to diagnosis and treatment and develop a Canadian CMS cohort for future research. […] The CNDR is a Canada-wide registry of people diagnosed with a neuromuscular disease, collecting important medical information from patients across the country to improve the understanding of neuromuscular disease and accelerate the development of new therapies.

• #25 Congenital myasthenic syndromes – about our research – Lochmüller Lab

  https://lochmullerlab.org/research-area/cms/

  Congenital myasthenic syndromes (CMS) are rare inherited neuromuscular disorders characterized by fatigable weakness of skeletal muscle owing to compromised function of the neuromuscular junction (NMJ). […] However, between 20 and 40% of patients with CMS remain without a molecular diagnosis after exome sequencing, and part of our research focuses on gene discovery to solve these remaining unsolved cases through the latest genome sequencing and multi-omics approaches. […] In collaboration with colleagues from the European Solve-RD project, we are working to develop a treatabolome for CMS a database of treatable variants that can be incorporated into genetic databases and analysis systems in order to flag up to the treating clinician or geneticist that a potential treatment is available. The hope is that this will increase the speed with which individuals with CMS receive the correct treatment.

• #26 An audit of pregnancy and outcomes in the congenital myasthenic syndromes | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/93/9/e2.197

  The congenital myasthenic syndromes (CMS) are a heterogenous group of genetic disorders leading to disordered neuromuscular junction transmission. Due to their rarity, data on pregnancy outcomes is limited. […] We report pregnancy outcomes in a relatively large CMS cohort. Whilst clinical worsening is common, it was usually reversible, and rates of miscarriage and caesarean section appeared similar to the background population. Foetal outcomes appeared good and no safety signal was generated in relation to medication use during pregnancy.

• #27

  https://link.springer.com/article/10.1007/s00415-022-11440-0

  However, it is likely that existing epidemiological data rather underestimate the real number of affected patients. […] Several nationwide studies have already been performed to delineate the genetic spectrum of CMS, and the findings indicate a variable distribution of molecular etiologies and specific mutations between ethnicities and different geographic regions.

• #28

  https://journals.lww.com/co-neurology/fulltext/2019/10000/the_congenital_myasthenic_syndromes__expanding.8.aspx

  A number of recent reports have reviewed literature on treatment and provided potential algorithms for treatments strategies. […] Many cases of CMS can be given effective symptomatic treatment with the drugs that are currently available once an understanding of the disease mechanism resulting from the mutation(s) is known. […] However, clinical application of next-generation sequencing is revealing mutations in which myasthenia is only one component in a much wider disease phenotype.

• #29

  https://apcz.umk.pl/JEHS/article/view/40979

  Muscle weakness in newborns, infants and young children can be caused by disorders of the neuromuscular junction (NMJ). Congenital myasthenic syndromes (CMS) are a group of rare genetic diseases whose symptoms resemble the clinical picture of autoimmune myasthenia gravis. […] The diagnosis of CMS is based on genetic testing. […] An increasing number of genetic changes are associated with CMS pathology. […] The interview, laboratory tests and EMG are helpful in the diagnosis, but genetic tests play a key role. […] Because of its rarity and variability, many CMS patients may be misdiagnosed. It is important to implement extensive genetic diagnostics and early implementation of treatment. There is a need for long-term studies of CMS cases and implementation of therapies targeted at specific mutations.

• #30 Congenital Myasthenic Syndromes – Epidemiology Forecast – 2032

  https://www.researchandmarkets.com/reports/5525284/congenital-myasthenic-syndromes-epidemiology?srsltid=AfmBOorxb1YMoarH_vWYJxX5o73BurHa_xLWSM9LSh_NxXrpIbC7Bhux

  This „Congenital Myasthenic Syndromes – Epidemiology Forecast to 2032” report delivers an in-depth understanding of the disease, historical and forecasted Congenital Myasthenic Syndromes epidemiology in the 7MM, i.e., the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. […] The Congenital Myasthenic Syndromes epidemiology report gives a thorough understanding of the Congenital Myasthenic Syndromes by including details such as disease definition, symptoms, causes, pathophysiology, and diagnosis. […] The Congenital Myasthenic Syndromes epidemiology division provides insights about historical and current patient pool and forecasted trend for every seven major countries. […] The Congenital Myasthenic Syndromes epidemiology segment covers the epidemiology data in the US, EU5 countries (Germany, Spain, Italy, France, and the UK), and Japan from 2019 to 2032.

• #31 Congenital Myasthenic Syndromes – Epidemiology Forecast – 2032

  https://www.researchandmarkets.com/reports/5525284/congenital-myasthenic-syndromes-epidemiology?srsltid=AfmBOorxb1YMoarH_vWYJxX5o73BurHa_xLWSM9LSh_NxXrpIbC7Bhux

  The Congenital Myasthenic Syndromes epidemiology covered in the report provides historical as well as forecasted Congenital Myasthenic Syndromes epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2019 to 2032. […] The report provides insight into the historical and forecasted patient pool of Congenital Myasthenic Syndromes in seven major markets covering the United States, EU5 (Germany, Spain, France, Italy, UK), and Japan. […] The report assesses the disease risk and burden and highlights the unmet needs of Congenital Myasthenic Syndromes. […] The report provides the segmentation of the Congenital Myasthenic Syndromes epidemiology. […] 11-year Forecast of Congenital Myasthenic Syndromes epidemiology. […] What are the key findings pertaining to the Congenital Myasthenic Syndromes epidemiology across 7MM and which country will have the highest number of patients during the forecast period (2019-2032)? […] What is the disease risk, burden and unmet needs of Congenital Myasthenic Syndromes?

• #32 Congenital Myasthenic Syndromes – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506686-congenital-myasthenic-syndromes-market-insight.html

  DelveInsight’s „Congenital Myasthenic Syndromes – Market Insights, Epidemiology, and Market Forecast – 2034” report delivers an in-depth understanding of the Congenital Myasthenic Syndromes, historical and forecasted epidemiology as well as the Congenital Myasthenic Syndromes market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] The Congenital Myasthenic Syndromes epidemiology division provide insights about historical and current Congenital Myasthenic Syndromes patient pool and forecasted trend for every seven major countries. […] The disease epidemiology covered in the report provides historical as well as forecasted Congenital Myasthenic Syndromes epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034.

• #33 Congenital Myasthenic Syndromes – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506686-congenital-myasthenic-syndromes-market-insight.html

  The epidemiology segment also provides the Congenital Myasthenic Syndromes epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan. […] The report provides insights into different therapeutic candidates in Phase II, and Phase III stage. […] The report covers the detailed information of collaborations, acquisition and merger, licensing, patent details and other information for Congenital Myasthenic Syndromes emerging therapies. […] What is the historical Congenital Myasthenic Syndromes patient pool in seven major markets covering the United States, EU5 (Germany, Spain, France, Italy, UK), and Japan? […] What would be the forecasted patient pool of Congenital Myasthenic Syndromes in seven major markets covering the United States, EU5 (Germany, Spain, France, Italy, UK), and Japan? […] Out of all 7MM countries, which country would have the highest prevalent population of Congenital Myasthenic Syndromes during the forecast period (2020-2034)?

• #34 Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission | Expert Reviews in Molecular Medicine | Cambridge Core

  https://www.cambridge.org/core/journals/expert-reviews-in-molecular-medicine/article/congenital-myasthenic-syndromes-spotlight-on-genetic-defects-of-neuromuscular-transmission/29EE8AA7FB018FC886C1B0CD8319F386

  The neuromuscular junction (NMJ) is a complex structure that efficiently communicates the electrical impulse from the motor neuron to the skeletal muscle to induce muscle contraction. […] Congenital myasthenic syndromes (CMSs) are a genetically and phenotypically heterogeneous group of rare hereditary disorders affecting neuromuscular transmission. […] The understanding of the molecular basis of the different types of CMSs has evolved rapidly in recent years. […] A precise molecular classification of CMS type is of paramount importance for the diagnosis, counselling and therapy of a patient, as different drugs may be beneficial or deleterious depending on the molecular background of the particular CMS.

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