Features Of Myasthenia Gravis Research Articles

Vitamin D receptor gene polymorphisms are associated with the risk and features of myasthenia gravis in the Han Chinese population.

Vitamin D receptor gene (VDR) polymorphisms are candidate genetic variants for susceptibility to autoimmune diseases. Here, we explored the association between VDR polymorphisms and myasthenia gravis (MG) susceptibility and disease features in a Han Chinese population. A total of 151 patients with MG and 146 healthy controls were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms using the improved multiple ligase detection reaction. Information regarding age at onset, acetylcholine receptor (AChR-Ab) and muscle-specific kinase (MuSK-Ab) antibody status, thymus status, involved muscles at onset, and Osserman type at maximum worsening during 2-year follow-up was obtained and used for subclassification grouping. Intergroup comparisons of allele and genotype frequencies and haplotype distributions were performed between the MG and control groups and between each pair of MG subgroups. The VDR rs7975232 polymorphism was associated with the risk of MG in allele, codominant (CC vs. CA), and dominant models (p = 0.040, p = 0.018, and p = 0.018, respectively). Moreover, subjects with the ACC haplotype (order of rs731236, rs7975232, rs1544410) were more likely to develop MG than those with other haplotypes (OR = 1.486, 95% CI: 1.017-2.171, p = 0.040). In a dominant model, the rs7975232 CC genotype frequency was significantly higher in the ocular MG group than in the generalized MG group (p = 0.019). The study findings suggest that the VDR rs7975232 C allele and the ACC haplotype can be associated to an increased susceptibility to the development of MG. Trial registration: NCT05380128.

Outcomes and characteristics of myasthenia gravis: A 10-year retrospective cross-sectional study at King Fahad Medical City.

To investigate the distribution of muscle weakness in Myasthenia gravis (MG) and the therapeutic response in each category. This is a retrospective cross-sectional study included all MG patients presented to our clinic between 2010 and 2020. The demographic, clinical, serological, electrophysiological, radiological, and histopathological data of the patients were recorded. The details of the treatment administered were also documented. Muscle weakness was divided into: ocular, bulbar, and generalized. The mean age of the 147 patients included in this study was 34.2±16.6 years. The most common presentation was ocular MG (57.1%). There was no significant association between the gender of the patients and the MG subgroups. Antibodies against AChR were reported in 95.2%, 75%, and 87% of the patients with ocular, bulbar, and generalized myasthenia, respectively. Anti-MuSK antibodies were detected in 20% of the patients with bulbar weakness. Most of the patients with ocular (91.7%) and bulbar (90%) presentation developed generalized weakness. At the end of the follow-up, 82.6%, 70.2%, and 57.5% of the patients with generalized, ocular, and bulbar presentations, respectively demonstrated well-controlled weakness. The most common initial presentation was ocular weakness. Most patients with ocular and bulbar presentation developed generalized weakness during the follow up period. The most frequently reported autoantibody was against AChR. Most patients with generalized, ocular, and bulbar presentation demonstrated well-controlled weakness at the end of the follow up period.

Clinical Features of Myasthenia Gravis With Antibodies to MuSK Based on Age at Onset: A Multicenter Retrospective Study in China.

IntroductionAntibodies to MuSK identify a rare subtype of myasthenia gravis (MuSK-MG). In western countries, the onset age of MuSK-MG peaks in the late 30's while it is unknown in Chinese population.MethodsIn this retrospective multicenter study, we screened 69 MuSK-MG patients from 2042 MG patients in five tertiary referral centers in China from October 2016 to October 2021 and summarized the clinical features and treatment outcomes. Then we subgrouped the patients into early-onset (<50 years old), late-onset (50–64 years old), and very-late-onset (≥65 years old) MG and compared the differences in weakness distribution, disease progression and treatment outcomes among three subgroups.ResultsThe patients with MuSK-MG were female-dominant (55/69) and their mean age at onset was 44.70 ± 15.84 years old, with a broad range of 17–81 years old. At disease onset, 29/69 patients were classified as MGFA Type IIb and the frequency of bulbar and extraocular involvement was 53.6 and 69.6%, respectively. There was no difference in weakness distribution. Compared with early-onset MuSK-MG, very-late-onset patients had a higher proportion of limb muscle involvement (12/15 vs.16/40, p = 0.022) 3 months after onset. Six months after onset, more patients with bulbar (14/15 vs. 26/39, p = 0.044) and respiratory involvement (6/15 vs. 0/13, p = 0.013) were seen in very-late-onset than in late-onset subgroup. The very-late-onset subgroup had the highest frequency of limb weakness (86.7%, p < 0.001). One year after onset, very-late-onset patients demonstrated a higher frequency of respiratory involvement than early-onset patients (4/12 vs. 2/35, p = 0.036). 39/64 patients reached MSE. Among 46 patients who received rituximab, very-late-onset patients started earlier than late-onset patients [6 (5.5–7.5) vs. 18 (12–65) months, p = 0.039], but no difference in the time and rate to achieving MSE was identified.ConclusionMuSK-MG patients usually manifested as acute onset and predominant bulbar and respiratory involvement with female dominance. Very-late-onset patients displayed an early involvement of limb, bulbar and respiratory muscles in the disease course, which might prompt their earlier use of rituximab. The majority MuSK-MG patients can benefit from rituximab treatment regardless of age at onset.

Characteristics of myasthenia gravis in elderly patients: a retrospective study.

The incidence of myasthenia gravis (MG) is increasing, and its characteristics in elderly patients are believed to differ from those in younger patients. However, only a few studies have focused on elderly patients with MG. To review the characteristics of MG in elderly patients and evaluate whether older age is an independent factor associated with achieving minimal manifestation status (MMS). This retrospective cohort study included 367 patients (319 non-elderly and 48 elderly patients) with MG enrolled at Xiangya Hospital from September 1, 2016, to December 31, 2018. We collected demographic data and information regarding comorbidities, antibody status, Myasthenia Gravis Foundation of America classification, affected muscle groups, thymoma, and treatment. MMS was defined as the primary outcome. Comorbidities were more common in elderly than in younger patients with MG. Anti-acetylcholine receptor antibody was the dominant subtype, whereas anti-muscle-specific tyrosine kinase antibody was rare and detected only in non-elderly patients. Elderly patients were more likely than younger patients to have generalized MG, but the frequency of thymoma was lower (28.5% vs. 10.4%, p = 0.0078). MMS or better was achieved in 154 (48.3%) and 13 (27.1%) non-elderly and elderly patients, respectively. Older age did not appear to be an independent factor associated with MMS (hazard ratio = 0.625; 95% confidence interval, 0.345-1.131). Older age was not an independent factor for a worse prognosis in patients with MG. The treatment of elderly patients with MG should be individually tailored.

Analysis of clinical manifestations and diagnosis of late-onset myasthenia gravis

Introduction. Myasthenia gravis is one of the most common autoimmune neuromuscular diseases, the peak incidence is in the age of 20–40 years. However, studies show that throughout the world in recent decades there has been an increase in the prevalence and incidence of myasthenia gravis among older people.Purpose of the study – to evaluate the clinical manifestations and diagnostic features of myasthenia gravis in patients with an onset of diseases in the elderly.Materials and methods. The retrospective, non-interventional study included 315 patients over 18 years old with a reliable (3 out of 4 criteria) and an undoubted (4 out of 4 criteria) diagnosis of myasthenia gravis, the duration of the disease for up to 5 years, undergoing inpatient treatment from 2001 to 2017 years. The severity of the clinical manifestations of myasthenia gravis was assessed using the Myasthenia Gravis Foundation of America scale. We were taken into account the information about the first symptoms, duration of the period from the onset of the disease to the verification of the diagnosis, results of the examinations, the presence of concomitant diseases and treatment methods.Results. The most common symptom of myasthenia gravis in the group of patients with debut disease aged 60 years and older was ptosis (p &lt;0.001). The crises and pathology of the thymus were less common in elderly patients (p &lt;0.0001). The concentration of antibodies to acetylcholine receptors was the same (p = 0.05) among all patients. The level of antibodies to titin was increased in patients with lateonset (p = 0.0014). The presence of bronchopulmonary pathology made worse the course of myasthenia gravis in elderly people (p = 0.01), while cardiovascular and cerebrovascular diseases, as well as diabetes mellitus, did not occur (p &gt;0.005). At the first examination in the group of elderly patients among the incorrectly diagnoses prevailed: stroke or decompensation of chronic cerebral ischemia (p = 0.0002). With a comparable duration and severity of myasthenia gravis in different age groups, the combination of anticholinesterase drugs, glucocorticosteroids and azathioprine (p = 0.01) at a lower daily dose (100 mg) was more often used for the treatment of elderly patients compared with young and middle-aged groups (150 mg) (p = 0.03).Conclusion. Diagnosis of myasthenia gravis in elderly patients presents the greatest difficulties, and symptoms of manifestation during initial treatment are often regarded as a manifestation of vascular pathology. Despite the presence of concomitant diseases characteristic of this age group, myasthenia gravis does not differ in the severity of the course. To achieve remission and compensation of symptoms, elderly patients do not need large doses of symptomatic and pathogenetic drugs.

Exploring outcomes and characteristics of myasthenia gravis: Rationale, aims and design of registry – The EXPLORE-MG registry

ObjectivesThough much information exists about the diagnosis, treatment, and epidemiology of myasthenia gravis (MG), a comprehensive data registry and biorepository is critical to better understand disease mechanisms, treatment outcomes, and the impact of treatment strategies. We aimed to design and implement the “Exploring Outcomes and Characteristics of Myasthenia Gravis (EXPLORE-MG) Registry” to address these knowledge gaps. MethodsA web-based, non-interventional, longitudinal, observational disease and outcomes registry was developed; incorporating NIH recommended common data elements for the study of MG. Individuals diagnosed with MG based on prespecified criteria were eligible to participate. The registry was further strengthened by a complementary biorepository. An interim analysis was completed on registry data collected through data-lock in 2017. ResultsA total of 232 MG patients, followed at the Yale MG Clinic from 2011 to 2017, were enrolled, which included 2142 total visit entries. Of the 232 MG patients (mean age 60 years, range 17–99; female:male, 1.04:1), 165 were acetylcholine receptor antibody-positive, 20 were muscle-specific kinase antibody-positive, and 47 were seronegative. This cohort consisted of 64 patients with ocular disease, 168 patients with generalized disease, and 65 patients post-thymectomy, including 20 with thymoma-associated MG. ConclusionsIdentification of key clinical features that may predict treatment responsiveness or provide insight into patient outcomes is essential to improve patient care. As current research focuses on the development of patient-tailored, targeted-treatment regimens, this registry can help provide important clinical and epidemiological data from a large contemporary patient cohort with long-term follow-up. RegistrationClinicalTrials.gov Identifier: NCT03792659

Clinical features of myasthenia gravis in elderly and senile patients

The prevalence of myasthenia gravis is 10-24 cases per 100, 000 population. The debut of the disease is possible at any age: from infancy to old age. In the literature, the definition of “myasthenia gravis with late onset” – at the age of 60 years and older, which is 20-46% of all cases. In this regard, the disease is often combined with a burdened somatic history, which makes it difficult to timely diagnosis and treatment. This group of elderly patients accounts for the majority of diagnostic errors in the diagnosis of myasthenia gravis. This study is devoted to the study of the features of the onset and course of myasthenia gravis in elderly and senile people.

Myasthenia Gravis-Our Experience in the Last Three Years with Interesting Associations

Background: Myasthenia gravis is a common immune mediated disease with a prevalence of 1 in 30000 populations. It is eminently treatable but when it presents atypically diagnosis can be missed. Aim: To look for the common and uncommon clinical features and antibody profile in patients with features of myasthenia gravis. Settings and design: Myasthenia gravis though well known to be associated with antibody to AchR receptor in the post synaptic membrane, a large group of patients are seronegative for AchR with atypical presentations. Anti- Titin antibody titre was done in 7 cases and anti-MUSK in 1 case when strongly indicated by clinical features. Materials and methods: 29 patients who were confirmed as Myasthenia gravis, seen by authors in the last 3 years were evaluated with anti AchR antibodies in all cases and; Anti-titin and Anti-musk antibodies when clinical indication was strong and patient could afford. Statistical analysis: Descriptive analysis was done as the number is small. Results and consideration: Maximum numbers of patients were seen in the younger age group. But patients with more serious disease, patients with Thymic and extrathymic Tumors, Anti-titin and musk associated patients were in the later age group. Thymic tumour has been not detected for nearly 10 years after disease onset in one case. Macroglossia, Motor neuron disease overlap is seen in one case which is relatively very rare. Though Myasthenia gravis is seen commonly in the young persons, Thymic and extrathymic tumors, Anti-titin antibody associated Myasthenia gravis is seen in later age group. Macroglossia and Motor neuron disease overlap features do not exclude MG.

Characteristics of myasthenia gravis with antibodies to muscle‐specific kinase and low‐density lipoprotein‐related receptor protein 4

AbstractMyasthenia gravis (MG) is characterized by fatigable weakness of voluntary muscles caused by immunoglobulin G autoantibodies binding to post‐synaptic proteins at the neuromuscular junction. Antibodies specific for the acetylcholine receptor are detected in the great majority (85%) of MG patients. Serum immunoglobulin G binding to the muscle‐specific kinase (MuSK) are found in approximately 40% of anti‐acetylcholine receptor‐negative patients. Recently, the low‐density lipoprotein receptor‐related protein 4 (Lrp4), which is the MuSK co‐receptor for agrin, has been recognized as a new antigen in MG. Specific antibodies bind to the extracellular domains of MuSK and Lrp4 and, as experimental models have shown, interfere with the protein function. The present review describes the MuSK‐Lrp4 complex, and summarizes the effects of MuSK and Lrp4 antibodies at the neuromuscular junction. Furthermore, the epidemiological and clinical characteristics, the response to therapy and the controversies in management of the specific diseases are discussed.

Gender and Ethnicity Based Differences in Clinical and Laboratory Features of Myasthenia Gravis

Background. Previous reports describe ethnicity based differences in clinical and laboratory features between Caucasians and African Americans with myasthenia gravis. However, it is not known whether these findings apply to other ethnicities. Methods. Retrospective analysis of all patients treated for myasthenia gravis during a three-year period at a community based medical center. Results. A total of 44 patients were included, including 19 of Hispanic, 16 of African American, 6 of Caucasian, and 3 of Asian ethnicities. Female gender was more common among those with Hispanic, Asian, and African American ethnicities compared to Caucasian ethnicity (p = 0.029). Anti-acetylcholine receptor antibody subtypes demonstrated no significant ethnicity based differences in either generalized or ocular myasthenia gravis. A trend was noted towards greater frequency of blocking antibodies among Hispanics (52.6%) compared to African American (37.5%) and Caucasian (33.3%) patients (p = 0.059). Generalized but not ocular myasthenia patients showed greater frequency of anti-muscle specific kinase antibodies in Asians and Hispanics compared to African Americans and Caucasians (p = 0.041). Conclusions. The results of this study support the existence of ethnicity based differences in clinical and laboratory features of myasthenia gravis. Further study of genetic factors influencing clinical features of myasthenia gravis is indicated.

P34-17 The clinical features of myasthenia gravis in a Malaysian population

P34-17 The clinical features of myasthenia gravis in a Malaysian population

The clinical features of myasthenia gravis associated with thyroid abnormalities

To analyze the clinical characteristics of myasthenia gravis (MG) associated with thyroid abnormalities. A total of 300 MG patients admitted to the department of neurology from July 2008 to September 2009 were reviewed retrospectively. Based on the thyroid function and abnormality of thyroid related antibodies (thyroglobulin antibody and peroxidase antibody), the patients with MG were divided into two groups (260 cases without thyroid disease and 40 cases with thyroid abnormalities). The different clinical features, the relationship between the antithyroid antibodies and anti-acetylcholine receptor antibody (AChRAb) and the distribution of T cell subsets between the two groups were compared. (1) Among the 300 MG patients, 13.3% of them was accompanied with thyroid disease and the most common abnormality was positive thyroid antibody. (2) Between the groups of MG with and without thyroid abnormalities, no significant differences on the sex percentage, age of onset, duration of disease, clinical classification and thymic abnormalities were found (P>0.05). (3) The blood levels of AChRAb in postsynaptic membrane in the thyroid antibody-positive patients were 1.15±0.11, being much higher than those in the antibody-negative patients (1.01±0.11). (4) The percentage of CD8+ T cells was significantly decreased [(21.63±5.17)% vs (24.28±5.79)%] and the ratio of CD4+/CD8+ T cells was increased (2.10±0.67 vs 1.81±0.61, P<0.05) in the group of MG with thyroid abnormality as compared with the group of MG with normal thyroid. In MG patients the incidence positive thyroid related antibodies was much higher than that of other thyroid abnormalities. It is suggested that there are higher levels of AChRAb in MG coexisting with positive thyroid antibodies and more abnormalities of T lymphocyte subset distribution in MG patients with thyroid disease.

Co-existence of Euthyroid Graves Ophthalmopathy and Isolated Ocular Myasthenia in a Patient with Vitiligo: A Challenging Diagnosis of Auto-immune Polyglandular Syndrome-3C

ABSTRACTWe report a case of euthyroid Graves ophthalmopathy associated with isolated ocular myasthenia gravis appearing in a patient with longstanding vitiligo, compatible with an autoimmune polyglandular syndrome-3C phenotype. The coexistence of these two entities, in the absence of either overt thyroid dysfunction or generalized features of myasthenia gravis may cause diagnostic confusion.

Sudden dysphagia in an elderly, quadriparetic patient

Clinical case We report the case of a 92-year-old quadriparetic patient who suddenly presented a major swallowing disorder following trauma to the neck. A diagnosis of myasthenia gravis was suggested by single-fibre EMG of the extensor digitorum communis muscle. In view of the continued absence of dysphagia after 6 months of pyridostigmine treatment, this diagnosis was considered as definitive. Discussion We review the various characteristics of myasthenia gravis and ways of investigating dysphagia. Conclusion It is important to be aware of and investigate all the direct and indirect signs of dysphagia and establish the exact aetiology in order to provide the best possible treatment.

The features of myasthenia gravis with autoantibodies to MuSK

The features of myasthenia gravis with autoantibodies to MuSK

The features of myasthenia gravis with autoantibodies to MuSK

Objectives: To determine if myasthenia gravis (MG) with antibodies to MuSK is a distinct subgroup of seronegative MG. Methods: We assayed antibodies to muscle specific tyrosine kinase (MuSK) in 55...

Incidence and characteristics of Myasthenia gravis in Dar Es Salaam, Tanzania.

To ascertain the annual incidence and characterise the clinical features of Myasthenia gravis in Dar es Salaam, Tanzania during a ten-year period from 1st January 1988 to 31 December 1998. Prospective cumulative registration at a major urban hospital of all patients with newly diagnosed Myasthenia gravis who were resident in Dar es salaam. Muhimbili Medical Centre Teaching Hospital, Dar es Salaam, Tanzania. Forty seven patients, twenty males, twenty seven females satisfied the criteria for the diagnosis of Myasthenia gravis (MG). The annual incidence of MG of both sexes was 3 per 1,000,000 population of all age groups (95% CI 2.0 to 3.6). The incidence per 1,000,000 population was lowest in those aged below ten years 2.2 (95% CI 1.4 to 3.4) which was statistically significant. The incidence per 1,000,000 per year was higher in females but this was not statistically significant. The clinical presentation of MG in Tanzania was localised disease accounting for 47% ocular type and 53% was mild to moderately severe generalised type MG. Twenty per cent of patients with generalised MG presented with bulbar features. Single fibre electromyography was the most sensitive test. Myasthenia gravis is fairly rare in Tanzania as is in other sub-Saharan countries and presents in similar way to European in terms of age, sex, and clinical features. Ocular Myasthenia gravis was more prevalent in Tanzania than in Europe.

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

Fetal arthrogryposis multiplex congenita (AMC) is characterised by non-progressive multiple joint contractures, which may result in fetal death, and is heterogeneous in origin. It can associate with maternal myasthenia gravis and autoantibodies to muscle acetylcholine receptor (AChR). We found maternal antibodies that selectively inhibit the fetal form of the AChR in a mother who herself had no features of myasthenia gravis. Maternal autoantibodies specific for fetal antigens could be an unrecognised cause of other congenital disorders.

Clinical and serological features of myasthenia gravis associated with thyroid diseases

Clinical and serological features of myasthenia gravis associated with thyroid diseases

Myasthenia gravis presenting during general anaesthesia for oesophagoscopy – a cautionary tale

We report myasthenia gravis presenting as dysphagia of acute onset in a 56-year-old female who had no other stigmata of the disease and who was generally well despite rheumatoid arthritis and hypothyroidism. She recovered respiratory function following a general anaesthetic for oesophagoscopy only when antimyasthenic treatment was instituted. She remains well to date. In patients who are known to have autoimmune diseases and who present with dysphagia, features of myasthenia gravis should be specifically sought.