Pearls & Oy-sters: The importance of atypical features and tracking progression in patients misdiagnosed with ALS

The clinical diagnosis of amyotrophic lateral sclerosis (ALS) is based on the presence of upper and lower motor neuron abnormalities spreading between body segments, along with the exclusion of rare disease mimics. No definitive diagnostic testing exists. Accurate, timely diagnosis of ALS is essential in order to provide appropriate patient counseling. While the revised El Escorial criteria provide standards for research purposes,1 trainees should be aware that many patients never meet criteria for definite ALS. ALS is a clinically heterogeneous disorder and presentations vary in regards to the distribution of weakness, rate of progression, and survival.2,3 Approximately 10% of patients with ALS will live more than 10 years.4 Patients carrying certain mutations in TARDBP and MART3 may have a longer survival.5,6 Despite this heterogeneity, a small number of patients carry an inaccurate diagnosis.
Source: Neurology - Category: Neurology Authors: Tags: All Neuromuscular Disease, Amyotrophic lateral sclerosis, EMG RESIDENT AND FELLOW SECTION Source Type: research

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Sickle cell disease (SCD) is the most commonly inherited genetic blood disorder, affecting nearly 100,000 children and adults in the United States. Three million Americans carry the sickle cell trait and it is nearly25 times more common in people of African American descent. The disorder, which can cause irregularly shaped blood cells to get stuck in narrow vessels, inflicts substantial pain on patients. The resulting reduced oxygen flow creates life-threatening complications such as difficulty breathing, chest pains, blood clots and stroke.
Source: The Catalyst - Category: Pharmaceuticals Authors: Tags: Research and Development Rare Diseases Pelosi Plan Source Type: news
Authors: Valerieva A, Senter R, Wu MA, Zanichelli A, Cicardi M Abstract Introduction: Hereditary angioedema (HAE) with C1 esterase inhibitor deficiency (C1-INH-HAE) is a rare disease that manifests with cutaneous and/or submucosal swellings due to uncontrolled activation of the contact/kinin system. Attacks recur with unpredictable frequency and severity, laryngeal edema is potentially lethal, and the disease burden may severely disrupt patients' lives.Areas covered: This review provides an overview on lanadelumab, a human monoclonal antibody targeted against plasma kallikrein that was recently approved for prevent...
Source: Expert Review of Clinical Immunology - Category: Allergy & Immunology Tags: Expert Rev Clin Immunol Source Type: research
In conclusion, using this method, we first delineated the spatial relationship of four different motor neuron pools targeting four skeletal muscles in one spinal cord at the same time, which provide a holistic view of motor neuron pools in the spinal cord. PMID: 31713439 [PubMed - in process]
Source: Artificial Cells, Nanomedicine and Biotechnology - Category: Biotechnology Tags: Artif Cells Nanomed Biotechnol Source Type: research
This article describes our institutional experience with head and neck paragangliomas, with an emphasis on evaluating clinical outcomes among malignant head and neck paragangliomas. All of these patients with malignant head and neck paragangliomas were considered surgical candidates without known metastatic disease at presentation. Furthermore, all patients were presented at our institutional head and neck treatment planning conference where surgical oncologists, medical oncologist s, and radiation oncologists recommend the best treatment option that is catered for each patient. Surgical resection was only offered when the...
Source: JAMA Otolaryngology - Head and Neck Surgery - Category: ENT & OMF Source Type: research
Bhanu Mishra, Sunil Prakash, Subhash Chandra, Sanjeev Gera, Ashwini Goel, Amit K Yadav, Ganesh Dhanuka, Satendra YadavIndian Journal of Nephrology 2019 29(6):431-432
Source: Indian Journal of Nephrology - Category: Urology & Nephrology Authors: Source Type: research
Conclusion: Overall, and even though we must account for the limitations of the indirect methods and models used for prevalence estimation, we probably have a very high ALS/MND prevalence in Portugal. It would be important to create registries, particularly in rare diseases, for better organization and distribution of healthcare services and resources, particularly at the level of ventilatory support.Neuroepidemiology
Source: Neuroepidemiology - Category: Epidemiology Source Type: research
Conclusions: We demonstrated in the SOD1G93A model of ALS that increased levels of several cytokines were associated with a shorter lifespan. However, their role as prognostic biomarkers is unclear as their expression was very variable depending on both the disease stage and the subject. Nevertheless, cytokines may be potential therapeutic targets. Introduction Amyotrophic Lateral Sclerosis (ALS) is one of the most common rare diseases of unknown origin that leads to progressive motor neuron degeneration and muscle denervation (1). In particular, it has been described that either distal axonopathy or neuromuscular ju...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Author Affiliations open 1Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands 2Environmental Epidemiology Division, Institute for Risk Assessment Sciences, Utrecht University, Utrecht, Netherlands 3Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, Netherlands 4Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, Netherlands 5Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center for Neuroscience, Radboud University Nijmegen Medical Center, Nijmegen, Netherla...
Source: EHP Research - Category: Environmental Health Authors: Tags: Research Source Type: research
Authors: Verschueren A Abstract Motor or motor-predominant neuropathies may arise from disease processes affecting the motor axon and/or its surrounding myelin. Lower motor neuron syndrome (LMNS) arises from a disease process affecting the spinal motor neuron itself. The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic ...
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research
Conclusions: PADL-ALS is a patient-centric revision of the ALSFRS designed specifically to conduct large pragmatic trials in ALS using the EMR patient-portal. Future directions include validation against concurrently collected ALSFRS, and determination of rates of progression in clinical settings. Study Supported by: PCORI Contract: CDRN-1306-04631, JS work supported by KL2TR000119.Disclosure: Dr. Barohn has received personal compensation for activities with Grifols &Genzyme, Speakers Bureau, NuFactor as speaker and consultant. Dr. Statland has nothing to disclose. Dr. Kimminau has nothing to disclose. Dr. McMahon has ...
Source: Neurology - Category: Neurology Authors: Tags: Natural History and Outcome in Motor Neuron Diseases and Peripheral Neuropathies Source Type: research
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