Early Responsiveness of Ocular Symptoms of Myasthenia Gravis with Plasma Exchange

75-year-old male presente with ptosis (figure 1), fatigue, slurred speech and dysphagia to the emergency department. Low frequency repetitive stimulation of the spinal acessory nerve with recordong from trapeius showed signifivant decrement. Plama excange was started and three days after treatment there was complete resolution of ptosis (figure 2). Older men show complete responsiveness to plasma exchange including an early and near complete response tp ocular symptoms

Botulinum toxin for the treatment of lower limb cramp pain in patients with Amyotrophic Lateral Sclerosis

Background: Muscle cramps and pain associated with them can be seen in patients with amyotrophic lateral sclerosis (ALS) and are known to reduce the quality of life. Pharmacological treatment may not benefit all patients in treating these cramps. We assess the efficacy of Onabotulinum toxin A (BTX-A) in the treatment of lower limb cramps in patients with ALS. Methods: This retrospective chart review included a total of ten patients with ALS who suffered from pain due to lower limb cramps and were managed with BTX-A. Data including patient demographics, visual analog pain scale at different intervals during follow up, ALS functional rating scale and site of onset of ALS symptoms were documented. The pain score at baseline (before administration), at 3 months follow up and at 6 months follow up were compared using Wilcoxon test to assess BTX-A’s efficacy. Results: A significant improvement in average pain score due to cramps from baseline to the 6-month interval with a change of 3.1±0.7 (p<0.05,95%CI) was seen on the pain scale. No adverse events were noted during administration or post injections. Conclusion: Local BTX-A administration is an efficacious and safe procedure for improving pain associated with cramps in patients with ALS

Review Article : Neuromuscular causes of weakness in critically ill patients

Multiple predisposing factors are responsible for the development of neuromuscular weakness in a critically ill patient. Thorough history and physical examination is paramount and should not be omitted despite that the majority of patients are unresponsive, confused or sedated. A comprehensive investigation protocol should be followed in all cases of weakness in ICU settings. The spectrum of neuromuscular diseases encountered in ICUs nowadays has rapidly evolved over the last decades. Early diagnosis and prompt treatment is necessary to reduce morbidity and mortality in critically ill patients and reduce the skyrocketing health care expenses.Includes bibliographical reference

Scapuloperoneal Myopathy and Cardiomyopathy with a Novel MYH7 Mutation: A Case Report

Introduction: Myosin heavy chain 7 (MYH7)-related myopathies have variable clinical features and onsets and are emerging as a group of muscle diseases that affect a wide range of age groups. While individuals with (MYH7)-related myopathies will present with cardiac or skeletal involvement, it is less common to see cardiac and skeletal involvement occurring in a single individual.  Case Report: A 66-year old right-handed woman presented to the clinic for progressive ascending weakness, weight loss, and severe dysphagia. Symptoms first arose when the patient was in her 20s when she reported lower extremity weakness. Over the years, the weakness has ascended, and today the patient is unable to raise her arms. The patient has a family history of muscle disease, but testing has not been done. Neurological examination of mental status and cranial nerve were intact. Shoulder abduction, flexion, and extension was 2/5 bilaterally. Hip flexion was 3/5, and foot dorsiflexion was 2/5 bilaterally. There was no elevation of serum creatinine, and EMG showed myopathic process. Muscle biopsy of the deltoid revealed a myopathic changes with mini cores. EKG reveals first degree AV block with anterior ischemia and echocardiogram showing features of dilated cardiomyopathy. The genetic panel revealed c.4522_c.4524del (p.Glu1508del) resulting in pathogenic mutation of MYH7 leading to scapuloperoneal myopathy. Discussion: This case report illustrates the variability in clinical presentation of adult-onset MYH7 myopathy. MYH7 gene-related myopathies have notable clinical variability that can lead to the missed or late diagnosis of this progressive myopathy. While our case highlights the pertinent family history and co-existing cardiac involvement that is strongly associated with MYH7 related myopathy, it also illustrates further cases of MYH7 mutations causing both cardiac and skeletal muscle disease

ICU related neuromuscular complications

The spectrum of neuromuscular diseases encountered in the ICUs today has rapidly evolved over the last decades.  Multiple predisposing factors are involved in the development of neuromuscular complications in intensive care patients. Those complications broadly classified into weakness from the preexisting neuromuscular disease exacerbated by critical illness or the complication of the critical illness itself. Patients, when unresponsive, confused, or sedated precludes careful clinical examination. A careful schematic approach that involves acquiring extensive history, any underlying infections, use of any offending medications, and the course of presenting illness will help in delineating the underlying etiology. Here in this review, we describe many causes and the pathophysiology that contribute to the development of neuromuscular weakness in the ICU. A comprehensive investigation protocol must strictly be adhered to all the cases in the ICU settings to reduce the mortality and morbidity.&nbsp

Clinical Experience of Edaravone in Amyotrophic Lateral Sclerosis

Objective: To describe clinical experience with edaravone in ALS over a period of 12 months Methods:The current study retrospectively investigated characteristics in a group of patients (n=31) with ALS who underwent edaravone treatment. Information including age, gender, race, and site of onset of symptoms were collected for all patients. Adverse events with edaravone therapy was documented where available. Results:The average age of the patients observed was 62.09 years, with 18 males and 13 females. 18 patients had limb onset, 12 bulbar onset, and 1 diaphragmatic onset. 7 of the 31 patients discontinued treatment at the end of one year. The average age of patients who discontinued edaravone was 65.71 years, of whom which 3 had limb onset, 3 bulbar onset, and 1 diaphragmatic onset. No perceived benefit, port complications, systemic bacteremia, and development of atrial fibrillation were documented as reasons for discontinuation of therapy.Conclusion: Edaravone is well tolerated in ALS patients at the end of one year. Lack of perceived benefit and port related complications are common reasons for discontinuation of treatmen

Obstetric-Gynecological Complications in Neuromuscular Disorders

Background and Objective: The data on the obstetric and gynecological complications in patients diagnosed with neuromuscular diseases is very limited and is primarily obtained from various case reports, series, and small studies.  The objective of our study was to analyze the prevalence of these complications in a large cohort of patients with various neuromuscular diseases. Methods: This study is a retrospective chart review of patients diagnosed with various neuromuscular diseases at the University of Missouri, Columbia, from 2012 to 2017. We included patients who have at least one year follow up with us. We collected data on patient demographics, neuromuscular disease diagnosed, obstetric complications, and gynecologic complications. Data are reported as means ± SEM, and the results reported using prevalence rates. Results: Ninety-five female patients were identified. Among them, 97% were Caucasian, and 3% were African-American with a mean age of 47.96 years.  Neuromuscular diseases identified among them are Myasthenia Gravis (44%), Muscular Dystrophy (23%), Amyotrophic Lateral Sclerosis-ALS (16%), Charcot-Marie-Tooth disease-CMT (10%), and Spinal Muscular atrophy- SMA (7%). The majority of the patients reviewed have had no obstetric complications- (89.40%). The most common obstetric complication recorded was C-section (8.40%).  41% of women did not have any gynecological complaints. Urine incontinence (24.20%) is the most common complication. Conclusion: C-sections and urinary incontinence are common obstetric and gynecological events seen in women with neuromuscular disease