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Neuromuscular diseases (NMDs) encompass a variety of ailments from muscular dystrophies to ataxias, in the course of which the functioning of the muscles is eventually either directly or indirectly impaired. The clinical diagnosis of a particular NMD is not always straightforward due to the clinical and genetic heterogeneity of the disorders under investigation. Traditional diagnostic tools such as electrophysiological tests and muscle biopsies are both invasive and painful methods, causing the patients to be reluctant. Next-generation sequencing, on the other hand, emerged as an alternative method for the diagnosis of NMDs, both with its minimally invasive nature and fast processing period. In this study, clinical exome sequencing (CES) was applied to a cohort of 70 probands in Turkey, 44 of whom received a final diagnosis, representing a diagnostic rate of 62.9%. Out of the 50 mutations identified to be causal, 26 were novel in the known 27 NMD genes. Two probands had complex/blended phenotypes. Molecular confirmation of clinical diagnosis of NMDs has a major prognostic impact and is crucial for the management and the possibility of alternative reproductive options. CES, which has been increasingly adopted to diagnose single-gene disorders, is also a powerful tool for revealing the etiopathogenesis in complex/blended phenotypes, as observed in two probands of the cohort.

Hereditary transthyretin amyloidosis (hATTR) is caused by the mutations of the transthyretin (TTR) gene. Length dependent sensory-motor neuropathy with autonomic involvement is the hallmark of the disease. However, it can manifest with unusual phenotypes. A 53-year-old man presented with progressive weakness in lower limbs and operated for lumbar spinal stenosis. The progression of weakness restarted after two years with the addition of symptoms related to polyneuropathy. Electrodiagnostic studies revealed sensorimotor polyneuropathy with autonomic involvement. Sural nerve biopsy disclosed amyloid deposits. Genetic testing of TTR gene identified Glu89Gln mutation. Two years after the diagnosis, he had another decompressive surgery for lumbar spinal stenosis. Histopathological examination of ligamentum flavum specimens revealed amyloid deposits. During the follow up, he was diagnosed with laryngeal amyloidosis, which is an unusual manifestation. Seven years after the diagnosis, he died due to cardiac complications. Our patient suggested that hATTR with Glu89Gln may present with atypical symptoms. Clinicians should carefully look for hATTR in recurrent lumbar stenosis.

B cells play a major role in the pathophysiology of myasthenia gravis (MG) with their ability to produce disease specific, pathogenic antibodies. However, their status during disease development and follow-up stages of the disease in the peripheral blood may need further studies to determine useful markers. In this study, we aimed to detect B cell associated factors concerning immunosuppressive treatment in generalized non-thymomatous MG patients. Although CD19(+) B cell distribution did not vary among disease subgroups, expressions of both CD38 and BAFFR were altered on B cells in MG patients under immunosuppressive therapy. Serum levels of BAFF were elevated in untreated MG patients as compared to treated MG patients and healthy controls. B cell activation factors may show profound alterations due to immunosuppression.

Background and purpose Impaired shoulder function is the most disabling problem for daily life of Fascioscapulohumeral muscular dystrophy (FSHD) patients. Scapulothoracic arthrodesis can give a high impact to the functionality of patients. Here we report our experience with scapulothoracic arthrodesis and spinal stenosis surgery in FSHD patients. Methods 32 FSHD patients were collected between 2015-2016. Demographical and clinical features were documented. All the patients were neurologically examined. The Medical Research Council (MRC) and the FSHD evaluation scale was used to assess muscle involvement1. Scapulothoracic arthrodesis and spinal stenosis surgeries were performed in eligible patients. Results There were 16 male and 16 female (mean age 34.4 years; range 12-73) patients. 6 shoulders of 4 patients aged between 2132 years underwent scapulothoracic arthrodesis (two bilateral, one left and one right sided). Only one 63 years old female patient with severe hyperlordosis had spinal fusion surgery. All of the patients undergoing these corrective surgeries have better functionality in daily life, as well as superior shoulder elevation. Conclusion Until the emergence and clinical use of novel therapeutics, surgical interventions are indicated in carefully selected patients with FSHD to improve arm movements, the posture and the quality of life of patients in general. Scapulothorosic arthrodesis is a management with good clinical results and patient satisfaction. In selected cases other corrective orthopedic surgeries like spinal fusion may also be considered.

Introduction In this study we sought to identify magnetic resonance imaging (MRI) signs of selective muscle involvement and disease progression in patients with spinal muscular atrophy type 3b (SMA3b). Methods Twenty-five patients with genetically confirmed SMA3b underwent MRI on a 1.5-Tesla MR scanner. Results MRI showed significantly more severe involvement of the iliopsoas than of the gluteus maximus muscles, and more severe involvement of the triceps brachii than of the biceps brachii muscles. The quadriceps femoris muscles were severely involved. The deltoid, adductor longus, portions of the hamstrings, gracilis, sartorius, and rectus abdominis muscles were well preserved. We found a significant positive correlation between MRI changes and disease duration for gluteus maximus and triceps brachii. Follow-up MRIs of 4 patients showed disease progression. Conclusions This study confirms the pattern of selective muscle involvement suggested by previous studies and further refines muscle MRI changes in SMA3b. Progressive muscle involvement is implicated. Muscle Nerve 55: 651–656, 2017

WOS: 000418884300024 PubMed ID: 29306245 Background/aim: The Motor Function Measure (MFM-32) is a classification system for ambulant and nonambulant patients with neuromuscular diseases (NMDs). We aimed to translate it into Turkish, culturally adapt it, and test its reliability and validity for Turkish patients with NMDs. Materials and methods: The translation of the 32 items assessing three functional areas: standing position and transfers (D1: 13), axial/proximal (D2: 12), and distal (D3: 7) motor functions was performed according to the established guidelines for cross-cultural adaptation. Totally 51 patients (12.56 +/- 8.84 years; F/M 12/39) were tested. Vignos and Brooke scores for the lower and upper extremities, respectively, were used for the validity of the MFM-32-TR items, which were rated on a 4-point Likert scale. Results: The agreement coefficients for interrater reliability were excellent (0.72-0.93) for 10 items, good (0.58-0.77) for 16 items, and moderate (0.42-0.56) for 6 items of the MFM-32-TR. The intertester reliability varied from good to excellent and the intraclass correlation coefficient was 0.76-0.93. The MFM-32-TR positively correlated with Vignos and Brooke scores with coefficients 0.47 to 0.75, indicating concurrent validity. Conclusion: The MFM-32-TR is a reliable and valid outcome measure for the assessment of motor function of people with NMDs in our sociocultural context.

BACKGROUND Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant myopathy characterized by facial and shoulder girdle muscle weakness with scapular winging. Scapulothoracic arthrodesis is a successful treatment approach for patients with

Background Scapulothoracic arthrodesis (STA) is a well-established surgical technique to provide scapular stabilisation in patients with facioscapulohumeral dystrophy (FSHD). There is no staging or scoring systems available to guide surgical decision. The aim of this study was to develop a staging system to evaluate the shoulder disability in patients with FSHD to guide surgical decision-making and assess its reliability among surgeons. Methods Fifty-seven shoulders of 29 patients (15 male, 14 female) with an average age of 34.5 years (13–73) were included. Six stages of the disease were defined to create a system consisting of shoulder elevation, deltoid function and scapular winging. Patients were assessed by two independent orthopaedic surgeons who were blind to each other. Statistical analyses included mean and standard deviation for descriptive variables, Pearson's correlation and Cohen's Kappa for inter- and intraobserver agreement. Results Measurement of elevation showed excellent correlation in both inter- and intraobserver assessment. There was substantial agreement on deltoid function and moderate agreement on scapular winging. Decisions on stage showed excellent agreement on interobserver and substantial agreement on intraobserver assessment. Surgical decision using the stage showed excellent agreement on both inter- and intraobserver assessment. Conclusion This novel staging system has an excellent inter observer agreement on FSHD patients’ shoulder disability. This would provide surgeons a beneficial tool to define patient groups that would have negatively or positively affected from STA.

Late-onset myasthenia gravis (LOMG) is a unique MG subgroup. More information is needed on its subgroups such as non-thymomatous generalized LOMG. We evaluated the effect of demographic, clinical, and serological factors as well as different immunosuppressive modalities on outcome in generalized non-thymomatous LOMG with onset ≥ 50 years. Myasthenia Gravis Foundation of America (MGFA) Clinical Classification, MGFA postintervention score (MGFA PIS) and MG Composite scores were obtained to define the severity of disease and clinical outcome. In 95 patients with generalized non-thymomatous LOMG, 60 (63%) were men, 45 (47%) had mild disease, 80 (84%) were anti-AChR, and 56 (61%) were anti-titin positive. In those who received immunosuppressives and provided the clinical scores (84 patients), 50 (60%) had favorable outcome (MGFA PIS categories of complete stable remission, pharmacological remission and minimal manifestations) at the end of 3 years. Use of prednisone + azathioprine had significantly positive effect on outcome. The presence of anti-titin antibodies had no significant effect on severity and outcome. Five anti-MuSK-positive patients had favorable outcome. In conclusion, the presence of neither anti-titin nor anti-MuSK antibodies points to unfavorable outcome. Prednisone and azathioprine combination has beneficial effects in non-thymomatous generalized LOMG.

Late-onset Pompe disease (LOPD) is characterized by progressive skeletal and respiratory muscle weakness. Little is known about the effect of inspiratory muscle training (IMT) on pulmonary function in subjects with LOPD. The aim of the present study was to investigate the effect of an 8-week IMT program on pulmonary function tests, quality of life, and sleep quality in eight patients with LOPD who were receiving enzyme replacement therapy (ERT). Before and after the IMT program, spirometric measurements in sitting and supine positions, and measurements of maximum inspiratory and expiratory pressures, peak cough flow, quality of life (assessed using the Nottingham Health Profile), and sleep quality (assessed using the Pittsburgh sleep quality index) were performed. A significant increase in maximum inspiratory pressure (cmH2O and % predicted) (median [interquartile range]: 30.0 cmH2O [21.5–48] versus 39 cmH2O [31.2–56.5] and 38.3 % [28.1–48.4] versus 50.5 % [37.7–54.9]) was observed after training (p = 0.01). There were no significant changes in the other pulmonary function measurements. With the exception of the social isolation subscore (p = 0.02), quality of life subscores did not change after IMT (p > 0.05). Sleep quality subscores and total scores were similar before and after IMT. These results suggest that IMT has a positive effect on maximum inspiratory pressure in subjects with LOPD who are under ERT.

Background Scapulothoracic arthrodesis (STA) is a well-established surgical technique to provide scapular stabilization in patients with facioscapulohumeral dystrophy (FSHD). There is no staging or scoring systems available to guide surgical decision. The aim of this study was to develop a staging system to evaluate the shoulder disability in patients with FSHD to guide surgical decision making and assess its reliability among surgeons. Methods Fifty-seven shoulders of 29 patients (15 male, 14 female) with an average age of 34.5 years (13–73) were included. Six stages of the disease were defined to create a system consisting of shoulder elevation, deltoid function and scapular winging. Patients were assessed by two independent orthopaedic surgeons who were blind to each other. Statistical analyses included mean and standard deviation for descriptive variables, Pearson's correlation and Cohen's Kappa for inter and intra observer agreement. Results Measurement of elevation showed excellent correlation in both inter- and intraobserver assessment. There was substantial agreement on deltoid function and moderate agreement on scapular winging. Decision on stage showed excellent agreement on inter observer and substantial agreement on intra observer assessment. Surgical decision using the stage showed excellent agreement on both inter and intra observer assessment. Conclusion This novel staging system has an excellent inter observer agreement on FSHD patients’ shoulder disability. This would provide surgeons a beneficial tool to define patient groups that would have negatively or positively affected from STA.

Background: The difficult course of patients with myasthenia gravis (MG) with anti-muscle-specific tyrosine kinase antibodies (MuSK) has been emphasized. However, no clear information is available on patients who have a benign course. Methods: This study was aimed at comparing patients with favorable (minimal manifestations [MM] or better) and unfavorable outcomes to determine whether excellent response to corticosteroid (CS) treatment within 3 months (good response-3 months) has any predictive effect on the prognosis. Results: Forty-six percent of 46 patients had a favorable outcome at year 3 and 54% at final follow-up. The major finding of this study was its high predictive value with good response-3 months. Those with good response-3 months had significantly more favorable outcome as compared to those without at year 3. The positive predictive value of good response-3 months was high (89% at year 3 and 84% at final follow-up). The negative predictive value diminished from 85% at year 3 to 67% at final follow-up due to increasing number of patients improving in the long run. Overall, 33% of the patients had a benign course with good response-3 months and no major exacerbations until the end of follow-up. Conclusions: Excellent response to CSs within 3 months appears to predict a favorable outcome in MuSK-MG.

OBJECTIVE: Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease. Patients show progressive oculopharyngeal and distal limb muscle involvement. As the genetic defect underlying OPDM is not known yet, the diagnosis currently rests upon clinical and histopathological features. This study aimed at investigating patterns of muscle alterations of OPDM patients by MRI and to search for possible clues to make differential diagnosis by using a non-invasive method. METHODS: Facial, upper and lower extremity muscles of 10 patients with OPDM, followed by the Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, who had undergone detailed evaluation with manual muscle testing and who had different disease severity were evaluated with a 1.5-Tesla Philipps Achieve MR scanner using conventional T1 and T2 weighted axial images. The degree of muscle involvement on MRI was evaluated according to a modified 5-point scale. RESULTS: The mean age of onset was 20.1± 8.2 years (range 7- 39 years) and the mean disease duration was 14.5± 12.4 years (range 2-41 years). Seven patients showed dominantly distal (mild to severe/wheelchair bound), one patient dominantly proximal weakness and two patients had no weakness. The patients without weakness had normal imaging, but facial muscle MRI from one of them revealed mild involvement. Zygomatic and nasal muscles were the most severely and earliest involved muscles. MRI of all patients with muscle weakness showed a consistent selective muscle involvement pattern. Distal extremity muscles were more affected than proximal muscles. Earliest and most sever changes were found in semimembranous, biceps femoris and medial head of gastrocnemius and soleus muscle. Interestingly, sartorius, gracilis and semitendinous muscles and the lateral head of gastrocnemius were well-preserved in OPDM. CONCLUSION: Muscle MRI by showing selective involvement of exteremity muscle may be a non-invasive tool in the differential diagnosis of OPDM.

Anti-MuSK positive myasthenia gravis (MuSK-MG) is rare prepuberty. We report a female patient with MuSK-MG starting at 3.5 years with ptosis as the sole symptom for 2 years. A brief period of generalization was followed by complete stable remission for 6 years. Prolonged ocular symptoms and long remissions are not features of MuSK-MG, but are often seen in prepubertal onset MG. The patient then presented at age 12 with moderately severe symptoms which were almost confined to oculobulbar muscles and were unresponsive to pyridostigmine. She was dependent on corticosteroids and thymectomy did not seem to be effective. She was later noted to have tongue atrophy after a period without treatment. Our patient thus presented with features seen in many prepubertal patients, but the later course was quite typical of MuSK-MG.

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant amyloidogenic transthyretin protein causes the systemic accumulation of amyloid fibrils that result in organ dysfunction. TTR-associated FAP is a progressive and fatal disease, if left untreated, and should be considered in the differential diagnosis of any person presenting with a progressive polyneuropathy, particularly with accompanying autonomic involvement. The clinical, electrophysiological, histopathological, and genetic characteristics of 17 patients from Turkey (5 female, 13 male) from nine families with polyneuropathy and mutations in TTR were evaluated. Sequence analysis of the TTR gene revealed five mutations (Va130Met, Glu89Gln, Gly53Glu, Glu54Gly and Gly47Glu). Mean age at disease onset was 40.4 +/- 13.9 years (range 21-66 years). The most commonly reported initial complaint was paresthesia in the feet (asymmetric in three patients). Three patients (2 male) with the Glu89Gln mutation presented with carpal tunnel syndrome. Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype. Seven patients died during the period of follow-up as a result of systemic involvement. Our study suggests that a cohort of patients from Turkey with TTR-FAP exhibits clinical and genetic heterogeneity. (C) 2016 Elsevier B.V. All rights reserved.

B cells from myasthenia gravis (MG) patients with autoantibodies (Aab) against acetylcholine receptor (AChR), muscle-specific kinase (MuSK) or with no detectable Aab were investigated as cytokine producing cells in this study. B cells were evaluated for memory phenotypes and expressions of IL-10, IL-6 and IL-12A. Induced productions of IL-10, IL-6, IL-12p40, TNF-α and LT from isolated B cells in vitro were measured by immunoassays. MG patients receiving immunosuppressive treatment had higher proportions of memory B cells compared with healthy controls and untreated patients. With CD40 stimulation MG patients produced significantly lower levels of IL-10, IL-6. With CD40 and B cell receptor stimulation of B cells, TNF-α production also decreased in addition to these cytokines. The lower levels of these cytokine productions were not related to treatment. Our results confirm a disturbance of B cell subpopulations in MG subgroups on immunosuppressive treatment. B cell derived IL-10, IL-6 and TNF-α are down-regulated in MG, irrespective of different antibody productions. Ineffective cytokine production by B cells may be a susceptibility factor in dysregulation of autoimmune Aab production.

PubMedID: 19285864 An 11-year-old girl with a calpain-3 gene (CAPN-3) mutation and eosinophilic myositis on muscle biopsy had high serum CK levels and eosinophil counts which showed spontaneous fluctuations. After commencement of immunosuppressive therapy reciprocal changes occured in response to alterations in doses of the medications. Subacutely evolving and spreading muscle weakness developed during tapering of the immunosuppressive medications. These observations suggest that either the occurrence of eosinophilic myositis or the withdrawal of the immunosuppressive treatment may have accelerated the clinical course of the calpainopathy in this case. The positive effect of immunosuppressive therapy might have implications for the management of calpainopathy with an inflammatory component. © 2009 Elsevier B.V. All rights reserved.

Objectives The purpose of our study was to show neuromuscular transmission abnormality in the masseter muscle of generalised myasthenia gravis (MG) patients and to compare motor end-plate failure of the masseter with the extensor digitorum communis (EDC) and periocular muscles. Methods Motor end-plate function was evaluated during voluntary contraction of the masseter muscle of 20 generalised MG patients aged between 16 and 63 years, as well as 20 age-matched healthy volunteers. The mean jitter value was calculated for each group and compared. The upper limit of normal jitter was also calculated and the number of jitters exceeding this cut-off value was counted for each group for comparison. In MG patients, jitter analysis was also performed in periocular and EDC muscles along with the masseter and the number of single fibre-like potentials with abnormal jitter was counted for each muscle. All tests were performed during the same session with a concentric needle electrode (CNE). Results For the masseter muscle, the mean jitter of all potential pairs was significantly higher in the patient group (24.7 ± 9.6 μs in healthy volunteers, 71.9 ± 41 μs in patients). The calculated mean jitter for the 18th highest value in healthy volunteers was 33.8 ± 5.9 μs (upper 95% confidence limit was 45.6 μs). The number of abnormal jitters (⩾46 μs) was significantly higher in the patient group (276 out of 402 jitters) compared to healthy volunteers (10 out of 400 jitters). In the patient group, the number of single fibre-like potentials with abnormal jitter was found to be similar for the masseter, periocular and EDC muscles. Conclusion The masseter muscle has diagnostic importance in generalised MG. The ratio of high jitters to all of the calculated jitters in a particular muscle was similar for masseter, periocular and EDC muscles. Significance Jitter analysis of the masseter muscle during voluntary contraction is easy to perform and it was found as informative as other muscles in patients with generalised MG.

Introduction: In the demyelinating form of Charcot–Marie–Tooth disease, median motor conduction velocity (MCV) was noted to be around 20 m/s in peripheral myelin protein 22 (PMP22) duplications, in contrast to higher MCVs in connexin 32 gene (Cx32) mutations and lower MCVs in the demyelinating form of myelin protein zero gene (MPZ) mutations. Methods: Nerve conduction studies were performed in 64 families with both common and rare mutations. Results: Mean MCV of the median nerve was 20 ± 5 m/s in PMP22 duplications, 34 ± 6 m/s in Cx32 mutations, 20 ± 9 m/s in KIAA1985 (SH3TC2) mutations, and 11 ± 8 m/s in MPZ mutations. Conduction was generally uniform; however, conduction blocks were present in 1 patient each with the MPZ mutation and PMP22 duplication, both with unusual phenotypes. Conclusion: Our results confirm those of the other investigators. Electrophysiological results of the rare KIAA1985 (SH3TC2) mutation reveal that their MCVs span a broad range and that conduction is uniform. Muscle Nerve, 2011

Objective: To investigate the activation of different complement pathways in myasthenia gravis (MG) subtypes. Subjects and Methods: Levels of complement breakdown products for different complement pathways were measured using ELISA in sera of acetylcholine receptor antibody (AChR-Ab)-positive (n = 21), muscle-specific receptor tyrosine kinase (MuSK)-Ab-positive (n = 23) and seronegative generalized MG patients (n = 21) and healthy controls (n = 22). Levels of factor Bb (FBb), the breakdown product of factor B, and C4d, the breakdown product of C4, were measured to evaluate the activity of the alternative and classical complement pathways, respectively. Serum iC3b levels were analyzed to assess total complement activity. The results were expressed as OD values. Results: MuSK-Ab-positive MG patients had a significantly higher mean concentration of serum FBb (0.638) than other MG subtypes (0.446 for AChR-Ab-positive, 0.537 for seronegative MG patients) and healthy controls (0.434) (p = 0.045). Mean serum iC3b (1.549–1.780) and C4d (0.364–0.395) levels were comparable among the groups. Conclusion: Our results suggest that MuSK-Ab-positive MG patients might have a complement-activating serum factor and the alternative complement pathway might be involved in the pathogenesis of the disease.

Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset, slowly progressive hereditary vacuolar myopathy in which the weakness and atrophy affect oculofacial, pharyngeal and distal skeletal muscles. The underlying genetic defect is yet unknown. Swallowing difficulties and hoarseness due to oropharyngeal involvement are two of the most prominent features of the condition affecting the quality of life and survival of the patients. Swallowing difficulty due to cord paresis and atrophy causes aspiration, compromises respiration and cause premature death. Vocal fold injection augmentation with different types of materials is a method used to treat vocal cord paralysis, paresis, atrophy and scars. It is a safe, repeatable, practical and effective procedure and can be performed in awake patients or under general anesthesia. Here, we report the dramatic outcome after vocal cord injection augmentation in a 43 years old female patient with OPDM, evidenced by improvement in ENT examination, videolaryngostroboscopic evaluation, Voice Handicap Index (Validated in Turkish), MDVP Analysis, M.D. Anderson Dysphagia Inventory, FEES (Fiberoptic Endoscopic Evaluation of Swallowing). We examined the patient, and performed all the tests during preoperative and postoperative 1st week, 1st month and 3rd month visits. No complications occurred during or after the procedure. The method was very successful in that aspirations stopped immediately after the injection, the voice became less hoarse and speech was more understandable. Augmentation was more effective for aspiration than for voice quality. Oculopharyngodistal myopathy is a non-curable genetic disease which threatens life due to respiratory insufficiency even in ambulatory patients. Application of vocal cord injection augmentation can be a promising symptomatic therapy option to decrease or stop aspiration in patients with OPDM. A larger study with more patients and longer follow-up is ongoing.

Findings in recent epidemiological studies have implied that the frequency of myasthenia gravis (MG) may be increasing in the elderly population. Published studies of late-onset MG have disclosed some of its characteristics: males are more frequently affected, the thymus is more likely to be involuted, there is a different HLA profile and anti-striatal muscle antibodies against titin/ryanodine receptors may be present. In our MG database, there were 95 generalized non-thymomatous MG patients with disease onset ⩾50 years who first presented to our outpatient clinic during the 10 years between 2001 and 2010 and who were followed for at least 3 years. All patients were contacted by phone calls or letters. There was a marked male preponderance with male to female ratio of 1.7:1. Onset was with predominantly ocular symptoms (62%), followed by bulbar symptoms (23%) and weakness in the extremities (11%); two patients had neck weakness and 4 had mixed onset symptoms. Anti-acetylcholine receptor antibodies (AChR Ab) were present in 84%, 5% were anti-MuSK Ab positive and 11 % were double negative. Sixty-two percent had anti-titin antibodies. The disease was mild (MGFA 2) in approximately half of the patients (47%) while 6% were intubated. Fifty-seven percent (including all of the patients with MuSK MG) had MGFA postintervention status of complete stable remission/pharmacological remission/minimal manifestations at the last visit. A further 28 % were improved. The combination of prednisolone and azathioprine appeared to be superior to these agents used alone. In 15 mildly affected patients in whom azathioprine was combined with low dose prednisolone (