An Atypical Presentation of Sarcoidosis.

Sarcoidosis is a multisystem disease characterized by non-caseating granulomatous organ infiltration. We describe an atypical presentation of sarcoidosis in a 43-year-old male presenting with fatigue and shortness of breath. He had a preceding history of recurrent venous thromboembolism (VTE), hemolytic anemia, cirrhosis, peripheral neuropathies, and calcium deposition, which pre-dated hypercalcemia; he was later diagnosed with IgA nephropathy.

Subcutaneous batoclimab in generalized myasthenia gravis: Results from a Phase 2a trial with an open-label extension.

Objectives: To assess the safety, tolerability, and key pharmacodynamic effects of subcutaneous batoclimab, a fully human anti-neonatal Fc receptor monoclonal antibody, in patients with generalized myasthenia gravis and anti-acetylcholine receptor antibodies.

Methods: A Phase 2a, proof-of-concept, randomized, double-blind, placebo-controlled trial is described. Eligible patients were randomized (1:1:1) to receive once-weekly subcutaneous injections of batoclimab 340 mg, batoclimab 680 mg, or matching placebo for 6 weeks.

Residual serum fibrinogen as a universal biomarker for all serotypes of Myasthenia gravis.

Myasthenia Gravis (MG) is an autoimmune disease associated with severe neuromuscular weakness. Diagnostic confirmation of MG is typically delayed and secured in about 85% and 50% of patients with generalized and ocular MG, respectively with serum antibodies. We have identified a sensitive and specific diagnostic biomarker for various MG serotypes with quantitative proteomics.

Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy.

Background The prognostic utility of cardiovascular magnetic resonance imaging, including strain analysis and tissue characterization, has not been comprehensively investigated in adult patients with muscular dystrophy. Methods and Results We prospectively enrolled 148 patients with dystrophinopathies (including heterozygotes), limb-girdle muscular dystrophy, and type 1 myotonic dystrophy (median age, 36.0 [interquartile range, 23.

Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series.

Background: Heart disease is an under-recognized cause of morbidity and mortality in patients with Emery-Dreifuss muscular dystrophy (EDMD). Arrhythmias and conduction delays are highly prevalent and given the rarity of this disease the patient care process remains poorly defined.

Case Summary: This study closely followed four adult patients from the Neuromuscular Multidisciplinary Clinic (Alberta, Canada) that presented with X-linked recessive EDMD.

Trajectory of left ventricular ejection fraction in response to therapies in patients with muscular dystrophy.

Background: Patients with muscular dystrophy (MD) are at elevated risk of serious cardiac complications and clinical assessment is limited due to inherent physical limitations. We assessed the utility of left ventricular ejection fraction (LVEF) derived from transthoracic echocardiogram (TTE) as a prognostic marker for major adverse cardiac events (MACE) in a mixed adult MD cohort.

Methods: One hundred and sixty-five MD patients (median age: 36 (interquartile range [IQR]: 23.

Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations.

Patients with mitochondrial diseases can develop cardiomyopathy but with variable expressivity and penetrance. Our prospective study enrolled and evaluated a cohort of 53 patients diagnosed with chronic progressive ophthalmoplegia (CPEO, = 34), Kearns-Sayre syndrome (KSS, = 3), neuropathy ataxia and retinitis pigmentosa (NARP, = 1), myoclonic epilepsy with ragged red fibers (MERRF, = 1), Harel-Yoon Syndrome (HYS, = 1) and 13 patients with undefined mitochondrial diseases, presenting primarily with neurological symptoms. Over a 4-year period, six patients in our study cohort were diagnosed with heart disease (11.

Patient preference for virtual versus in-person visits in neuromuscular clinical practice.

Introduction/aims: It is unknown if patients with neuromuscular diseases prefer in-person or virtual telemedicine visits. We studied patient opinions and preference on virtual versus in-person visits, and the factors influencing such preferences.

Methods: Telephone surveys, consisting of 11 questions, of patients from 10 neuromuscular centers were completed.

Eculizumab in refractory generalized myasthenia gravis previously treated with rituximab: subgroup analysis of REGAIN and its extension study.

Introduction/aims: Individuals with refractory generalized myasthenia gravis (gMG) who have a history of rituximab use and experience persistent symptoms represent a population with unmet treatment needs. The aim of this analysis was to evaluate the efficacy and safety of eculizumab in patients with refractory anti-acetylcholine receptor antibody-positive (AChR ) gMG previously treated with rituximab.

Methods: This post hoc subgroup analysis of the phase 3 REGAIN study (NCT01997229) and its open-label extension (OLE; NCT02301624) compared baseline characteristics, safety, and response to eculizumab in participants who had previously received rituximab with those who had not.

A 58-Year-Old Man With Episodic Hypercapnic Respiratory Failure.

A 58-year-old man presented to the ED with a 1-week history of progressive weight loss, generalized weakness, unsteadiness, and dizziness. In hospital, he experienced a witnessed episode of loss of consciousness with no observable respirations that lasted for 15 minutes. His arterial blood gas demonstrated hypercapnic respiratory failure, and he required mask ventilation and vasoactive medications.

Clinical utility of 12-lead electrocardiogram in evaluating heart disease in patients with muscular dystrophy: Assessment of left ventricular hypertrophy, conduction disease, and cardiomyopathy.

Introduction: Heart disease remains a leading cause of mortality in patients with muscular dystrophy (MD), and cardiac assessment by standard imaging modalities is challenging due to the prominence of physical limitations.

Methods: In this prospective cohort study of 169 MD patients and 34 negative control patients, we demonstrate the clinical utility of a 12-lead electrocardiogram (ECG) as an effective modality for the assessment of cardiac status in patients with MD. We assessed the utility of conventional criteria for electrocardiogram-indicated left ventricular hypertrophy (ECG-LVH) as well as ECG morphologies.

Canadian Guidelines for Hereditary Transthyretin Amyloidosis Polyneuropathy Management.

Hereditary transthyretin-mediated (hATTR) amyloidosis is a progressive disease caused by mutations in the TTR gene leading to multisystem organ dysfunction. Pathogenic TTR aggregation, misfolding, and fibrillization lead to deposition of amyloid in multiple body organs and frequently involve the peripheral nerve system and the heart. Common neurologic manifestations include: sensorimotor polyneuropathy (PN), autonomic neuropathy, small-fiber PN, and carpal tunnel syndrome.

Rituximab in Myasthenia Gravis - Where do we stand?

: Myasthenia gravis (MG) is an antibody-mediated disease with diverse serology and clinical presentation. Currently, MG is managed by untargeted immunomodulatory agents. About 15% patients are refractory to these therapies.

"Complex" Vasovagal Syncope: A Zebra Among Horses.

Vasovagal syncope (VVS) occurs due to cerebral hypoperfusion from a fall in blood pressure, with accompanying bradycardia in most cases. Seizure and/or asystole may accompany VVS, though their prediction within the VVS cohort remains elusive. To further characterize VVS and to find predictive features of "complex" VVS (defined as VVS associated with seizures and/or asystole).

Reduced plasmablast frequency is associated with seronegative myasthenia gravis.

Background: The immunopathology of autoimmune seronegative myasthenia gravis (SN MG) is poorly understood. Our objective was to determine immune profiles associated with a diagnosis of SN MG.

Methods: We performed high-dimensional flow cytometry on blood samples from SN MG patients (N = 68), healthy controls (N = 46), and acetylcholine receptor antibody (AChR+) MG patients (N = 27).

Pharmacodynamic Properties of Subcutaneous Immunoglobulin in Myasthenia Gravis: Sub-analyses From an Open-Label Trial.

We previously reported an open-label prospective trial of subcutaneous immunoglobulin (SCIg) in mild to moderate exacerbations of myasthenia gravis (MG). The effective dose of SCIg in MG and whether measured immunoglobulin G (IgG) levels correlated with measures of disease burden were not reported. To understand the relationship between SCIg dosing and serum IgG levels on measures of disease burden: quantitative MG (QMG), MG activities of daily living (MG-ADL), MG composite (MGC), and manual muscle testing (MMT) scores.

Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America.

Objectives: To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families.

Design: Retrospective cohort study.

Setting: Clinics across North America.

Evaluating the diagnostic and prognostic value of biomarkers for heart disease and major adverse cardiac events in patients with muscular dystrophy.

Aims: Heart disease is recognized as the leading cause of morbidity and mortality in patients with muscular dystrophy (MD). Our study demonstrates the clinical utility of cardiac biomarkers to improve the diagnosis of cardiomyopathy and prognostication of major adverse cardiac events (MACE) in these vulnerable patients.

Methods And Results: We prospectively followed 117 patients [median age, 42 [interquartile range (IQR), 26-50) years; 49 (41.