Motor Neurone Disease
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New Observations Letters Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting As Intractable Oromandibular Dystonia
Freely available online New Observations Letters Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia 1,2 2,3 1,3* Kyung Ah Woo , Jee-Young Lee & Beomseok Jeon 1 Department of Neurology, Seoul National University Hospital, Seoul, KR, 2 Department of Neurology, Seoul National University Boramae Hospital, Seoul, KR, 3 Seoul National University College of Medicine, Seoul, KR Keywords: Dystonia, spinocerebellar ataxia type 2, Parkinson’s disease Citation: Woo KA, Lee JY, Jeon B. Familial spinocerebellar ataxia type 2 parkinsonism presenting as intractable oromandibular dystonia. Tremor Other Hyperkinet Mov. 2019; 9. doi: 10.7916/D8087PB6 * To whom correspondence should be addressed. E-mail: [email protected] Editor: Elan D. Louis, Yale University, USA Received: October 20, 2018 Accepted: December 10, 2018 Published: February 21, 2019 Copyright: ’ 2019 Woo et al. This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original authors and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed. Funding: None. Financial Disclosures: None. Conflicts of Interest: The authors report no conflict of interest. Ethics Statement: This study was reviewed by the authors’ institutional ethics committee and was considered exempted from further review. We have previously described a Korean family afflicted with reflex, mildly stooped posture, and parkinsonian gait. There was spinocerebellar ataxia type 2 (SCA2) parkinsonism in which genetic no sign of lower motor lesion, including weakness, muscle atrophy, analysis revealed CAG expansion of 40 repeats in the ATXN2 gene.1 or fasciculation. -
AMYOTROPHIC LATERAL SCLEROSIS Spin21 (1)
AMYOTROPHIC LATERAL SCLEROSIS Spin21 (1) Amyotrophic Lateral Sclerosis (ALS) Synonyms: CHARCOT'S DISEASE (in Europe), LOU GEHRIG'S DISEASE (in USA) Last updated: April 22, 2019 ETIOPATHOPHYSIOLOGY, PATHOLOGY .................................................................................................. 1 GENETICS ............................................................................................................................................... 3 EPIDEMIOLOGY ........................................................................................................................................ 3 Genetics ............................................................................................................................................ 3 CLINICAL FEATURES ............................................................................................................................... 3 EL ESCORIAL WORLD FEDERATION OF NEUROLOGY CRITERIA .............................................................. 4 CLINICAL COURSE & PROGNOSIS ........................................................................................................... 4 VARIANTS .............................................................................................................................................. 5 DIAGNOSIS................................................................................................................................................ 5 TREATMENT ............................................................................................................................................ -
Cramp Fasciculation Syndrome: a Peripheral Nerve Hyperexcitability Disorder Bhojo A
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by eCommons@AKU Pakistan Journal of Neurological Sciences (PJNS) Volume 9 | Issue 3 Article 7 7-2014 Cramp fasciculation syndrome: a peripheral nerve hyperexcitability disorder Bhojo A. Khealani Aga Khan University Hospital, Follow this and additional works at: http://ecommons.aku.edu/pjns Part of the Neurology Commons Recommended Citation Khealani, Bhojo A. (2014) "Cramp fasciculation syndrome: a peripheral nerve hyperexcitability disorder," Pakistan Journal of Neurological Sciences (PJNS): Vol. 9: Iss. 3, Article 7. Available at: http://ecommons.aku.edu/pjns/vol9/iss3/7 CASE REPORT CRAMP FASCICULATION SYNDROME: A PERIPHERAL NERVE HYPEREXCITABILITY DISORDER Bhojo A. Khealani Assistant professor, Neurology section, Aga khan University, Karachi Correspondence to: Bhojo A Khealani, Department of Medicine (Neurology), Aga Khan University, Karachi. Email: [email protected] Date of submission: June 28, 2014, Date of revision: August 5, 2014, Date of acceptance:September 1, 2014 ABSTRACT Cramp fasciculation syndrome is mildest among all the peripheral nerve hyperexcitability disorders, which typically presents with cramps, body ache and fasciculations. The diagnosis is based on clinical grounds supported by electrodi- agnostic study. We report a case of young male with two months’ history of body ache, rippling, movements over calves and other body parts, and occasional cramps. His metabolic workup was suggestive of impaired fasting glucose, radio- logic work up (chest X-ray and ultrasound abdomen) was normal, and electrodiagnostic study was significant for fascicu- lation and myokymic discharges. He was started on pregablin and analgesics. To the best of our knowledge this is report first of cramp fasciculation syndrome from Pakistan. -
Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
n e u r o l o g i a i n e u r o c h i r u r g i a p o l s k a 4 8 ( 2 0 1 4 ) 3 6 8 – 3 7 2 Available online at www.sciencedirect.com ScienceDirect journal homepage: http://www.elsevier.com/locate/pjnns Case report Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) – A case report and review of literature a a b a, Monika Figura , Małgorzata Gaweł , Anna Kolasa , Piotr Janik * a Department of Neurology, Medical University of Warsaw, Warsaw, Poland b 2nd Department of Clinical Radiology, Medical University of Warsaw, Warsaw, Poland a r t i c l e i n f o a b s t r a c t Article history: CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome) is a rare Received 19 March 2014 neurological syndrome of unknown etiology. The main clinical features include bilateral Accepted 27 August 2014 vestibulopathy, cerebellar ataxia and sensory neuropathy. An abnormal visually enhanced Available online 6 September 2014 vestibulo-ocular reflex is the hallmark of the disease. We present a case of 58-year-old male patient who has demonstrated gait disturbance, imbalance and paresthesia of feet for 2 fl Keywords: years. On examination ataxia of gait, diminished knee and ankle re exes, absence of plantar reflexes, fasciculations of thigh muscles, gaze-evoked downbeat nystagmus and abnormal Cerebellar ataxia with neuropathy visually enhanced vestibulo-ocular reflex were found. Brain magnetic resonance imaging and vestibular areflexia syndrome revealed cerebellar atrophy. Vestibular function testing showed severely reduced horizontal Cerebellar ataxia nystagmus in response to bithermal caloric stimulation. -
Neuromuscular Disorders Neurology in Practice: Series Editors: Robert A
Neuromuscular Disorders neurology in practice: series editors: robert a. gross, department of neurology, university of rochester medical center, rochester, ny, usa jonathan w. mink, department of neurology, university of rochester medical center,rochester, ny, usa Neuromuscular Disorders edited by Rabi N. Tawil, MD Professor of Neurology University of Rochester Medical Center Rochester, NY, USA Shannon Venance, MD, PhD, FRCPCP Associate Professor of Neurology The University of Western Ontario London, Ontario, Canada A John Wiley & Sons, Ltd., Publication This edition fi rst published 2011, ® 2011 by Blackwell Publishing Ltd Blackwell Publishing was acquired by John Wiley & Sons in February 2007. Blackwell’s publishing program has been merged with Wiley’s global Scientifi c, Technical and Medical business to form Wiley-Blackwell. Registered offi ce: John Wiley & Sons Ltd, The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK Editorial offi ces: 9600 Garsington Road, Oxford, OX4 2DQ, UK The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK 111 River Street, Hoboken, NJ 07030-5774, USA For details of our global editorial offi ces, for customer services and for information about how to apply for permission to reuse the copyright material in this book please see our website at www.wiley.com/wiley-blackwell The right of the author to be identifi ed as the author of this work has been asserted in accordance with the UK Copyright, Designs and Patents Act 1988. All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher. -
Palliative Care in Amyotrophic Lateral Sclerosis: from Diagnosis to Bereavement, 2Nd Edn, Pp
Palliative Care in Amyotrophic Lateral Sclerosis From Diagnosis to Bereavement THIRD EDITION Edited by David Oliver Consultant in Palliative Medicine Wisdom Hospice, Rochester and Honorary Reader University of Kent, UK Gian Domenico Borasio Chair in Palliative Medicine Director, Palliative Care Service Centre Hospitalier Universitaire Vaudois University of Lausanne, Switzerland Wendy Johnston Professor of Neurology Director, ALS Programme University of Alberta, Canada 1 1 Great Clarendon Street, Oxford, OX2 6DP, United Kingdom Oxford University Press is a department of the University of Oxford. It furthers the University’s objective of excellence in research, scholarship, and education by publishing worldwide. Oxford is a registered trade mark of Oxford University Press in the UK and in certain other countries © Oxford University Press 2014 The moral rights of the authors have been asserted Second Edition published in 2006 9780199212934 HB 9780198570486 PB First Edition published in 2000 9780192631664 Impression: 1 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, without the prior permission in writing of Oxford University Press, or as expressly permitted by law, by licence or under terms agreed with the appropriate reprographics rights organization. Enquiries concerning reproduction outside the scope of the above should be sent to the Rights Department, Oxford University Press, at the address above You must not circulate this work in any other form and you must impose this same condition on any acquirer Published in the United States of America by Oxford University Press 198 Madison Avenue, New York, NY 10016, United States of America British Library Cataloguing in Publication Data Data available Library of Congress Control Number: 2013950545 ISBN 978–0–19–968602–5 Printed and bound by CPI Group (UK) Ltd, Croydon, CR0 4YY Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct. -
Facial Myokymia: a Clinicopathological Study
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.37.6.745 on 1 June 1974. Downloaded from Journal ofNeurology, Neurosurgery, and Psychiatry, 1974, 37, 745-749 Facial myokymia: a clinicopathological study P. K. SETHI1, BERNARD H. SMITH, AND K. KALYANARAMAN From the Department of Neurology, Edward J. Meyer Memorial Hospital anid School of Medicine, State University of New York at Buffalo, N. Y., U.S.A. SYNOPSIS Clinicopathological correlations are presented in a case of facial myokymia with facial palsy. The causative lesions were considered to be metastatic tumours to the pons and it was con- cluded that both the facial palsy and the myokymia were due to interruption of supranuclear path- ways impinging on the facial nucleus. Oppenheim (1916) described a patient with con- CASE REPORT tinuous undulation and fasciculation in the right A 57 year old white man was admitted to hospital on facial muscles. The movements had started in the 30 December 1971, suffering from productive cough, infraorbital region and progressed to involve the haemoptysis, and weight loss of some months' dura- entire territory of the facial nerve. He called the tion. He had been a heavy smoker for many years. Protected by copyright. condition facial myokymia, commented on its There was no history of fever or of pains around the association with sustained facial contraction, face. and expressed the view that, like facial palsy, it He was oriented as to time, place, and person but might be an early sign of multiple sclerosis. Kino confused and lethargic and unable to describe his (1928) reported three patients with undulating symptoms well. -
Abadie's Sign Abadie's Sign Is the Absence Or Diminution of Pain Sensation When Exerting Deep Pressure on the Achilles Tendo
A.qxd 9/29/05 04:02 PM Page 1 A Abadie’s Sign Abadie’s sign is the absence or diminution of pain sensation when exerting deep pressure on the Achilles tendon by squeezing. This is a frequent finding in the tabes dorsalis variant of neurosyphilis (i.e., with dorsal column disease). Cross References Argyll Robertson pupil Abdominal Paradox - see PARADOXICAL BREATHING Abdominal Reflexes Both superficial and deep abdominal reflexes are described, of which the superficial (cutaneous) reflexes are the more commonly tested in clinical practice. A wooden stick or pin is used to scratch the abdomi- nal wall, from the flank to the midline, parallel to the line of the der- matomal strips, in upper (supraumbilical), middle (umbilical), and lower (infraumbilical) areas. The maneuver is best performed at the end of expiration when the abdominal muscles are relaxed, since the reflexes may be lost with muscle tensing; to avoid this, patients should lie supine with their arms by their sides. Superficial abdominal reflexes are lost in a number of circum- stances: normal old age obesity after abdominal surgery after multiple pregnancies in acute abdominal disorders (Rosenbach’s sign). However, absence of all superficial abdominal reflexes may be of localizing value for corticospinal pathway damage (upper motor neu- rone lesions) above T6. Lesions at or below T10 lead to selective loss of the lower reflexes with the upper and middle reflexes intact, in which case Beevor’s sign may also be present. All abdominal reflexes are preserved with lesions below T12. Abdominal reflexes are said to be lost early in multiple sclerosis, but late in motor neurone disease, an observation of possible clinical use, particularly when differentiating the primary lateral sclerosis vari- ant of motor neurone disease from multiple sclerosis. -
Case Amyotrophic Lateral Sclerosis
Case Amyotrophic Lateral Sclerosis: First Case Report in Department of Neurosurgery, Faculty of Medicine, Universitas Padjadjaran, Bandung Ahmad Faried, Priandana Adya Eka Saputra, Alief Dhuha, Muhammad Zafrullah Arifin Department of Neurosurgery, Faculty of Medicine, Universitas Padjadjaran-Dr. Hasan Sadikin Hospital, Bandung Abstract Objective: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that is incurable and results in paralysis of the muscles. Electromyography (EMG) is used to diagnosis amyotrophic lateral sclerosis. Although recently several years and is helping those who are newly diagnosed. there is no cure for ALS, knowledge has increased significantly in the past Methods: Neurosurgery, Faculty of Medicine, Universitas Padjadjaran-Dr. Hasan Sadikin GeneralThis Hospital,study reported Bandung afor 58-year the firstold mantime who in wasDepartment presented inof the institution with a history of weakness of both lower extremities for four months preceded by weakness of both upper extremities since the previous month. There was no history of any medical illness or any chronic medication. The patient then underwent EMG studies, followed by muscle biopsy. Results: diagnosis of ALS. Electromyography and histopathological results confirmed a Received: Conclusions: This case was so exceptional, since ALS occurrence in April 24, 2018 Neurosurgery Centre is extremely rare, and the diagnosis can only be established through EMG and histopathological of muscle biopsy studies. Revised: December 20, 2018 Keywords: electromyography -
Motor Neuron Disease Motor Neuron Disease
Motor Neuron Disease Motor Neuron Disease • Incidence: 2-4 per 100 000 • Onset: usually 50-70 years • Pathology: – Degenerative condition – anterior horn cells and upper motor neurons in spinal cord, resulting in mixed upper and lower motor neuron signs • Cause unknown – 10% familial (SOD-1 mutation) – ? Related to athleticism Presentation • Several variations in onset, but progress to the same endpoint • Motor nerves only affected • May be just UMN or just LMN at onset, but other features will appear over time • Main patterns: – Amyotrophic lateral sclerosis – Bulbar presentaion – Primary lateral sclerosis (UMN onset) – Progressive muscular atrophy (LMN onset) Questions Wasting Classification • Amyotrophic Lateral Sclerosis • Progressive Bulbar Palsy • Progressive Muscular Atrophy • Primary Lateral Sclerosis • Multifocal Motor Neuropathy • Spinal Muscular Atrophy • Kennedy’s Disease • Monomelic Amyotrophy • Brachial Amyotrophic Diplegia El Escorial Criteria for Diagnosis Tongue fasiculations Amyotrophic lateral sclerosis • ‘Typical’ presentation (60%+) • Usually one limb initially – Foot drop – Clumsy weak hand – May complain of cramps • Gradual progression over months • May be some wasting at presentation • Usually fasiculations (often more widespread) • Brisk reflexes, extensor plantars • No sensory signs; MAY occasionally be mild symptoms • Relentless progression, noticable over weeks/ months Bulbar MND • Approximately 30% of cases • Onset with dysarthria, dysphagia • Bulbar and pseudobulbar symptoms • On examination – Dysarthria – -
By : Ali Younes Ali Dr : Mehdi Delrobaei
K.N.Toosi University of Technology By : Ali younes ali Dr : Mehdi Delrobaei Contents 1-Introduction and general description 2-Signs and symptoms 3-Risk factors 4-Causes 5-Ways of detection 6-Treatment 7-References 1-Introduction and General description Fasciculations (muscle twitch): is a small, local, involuntary muscle contraction and relaxation which may be visible under the skin Deeper areas can be detected by electromyography (EMG) testing, though they can happen in any skeletal muscle in the body Fasciculations can often by visualized and take the form of a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb Fasciculations arise as a result of spontaneous depolarization of a lower motor neuron leading to the synchronous contraction of all the skeletal muscle fibers within a single motor unit Usually, intentional movement of the involved muscle causes fasciculations to cease immediately, but they may return once the muscle is at rest again. Fasciculations have a variety of causes, the majority of which are benign, but can also be due to disease of the motor neurons They are encountered by virtually all healthy people, though for most, it is quite infrequent In some cases, the presence of fasciculations can be annoying and interfere with quality of life If a neurological examination is otherwise normal and EMG testing does not indicate any additional pathology, a diagnosis of benign fasciculation syndrome is usually made 2-Signs and symptoms The main symptom of fasciculation is focal or widespread involuntary muscle activity (twitching), which can occur at random or specific times (or places). -
Part Ii – Neurological Disorders
Part ii – Neurological Disorders CHAPTER 14 MOVEMENT DISORDERS AND MOTOR NEURONE DISEASE Dr William P. Howlett 2012 Kilimanjaro Christian Medical Centre, Moshi, Kilimanjaro, Tanzania BRIC 2012 University of Bergen PO Box 7800 NO-5020 Bergen Norway NEUROLOGY IN AFRICA William Howlett Illustrations: Ellinor Moldeklev Hoff, Department of Photos and Drawings, UiB Cover: Tor Vegard Tobiassen Layout: Christian Bakke, Division of Communication, University of Bergen E JØM RKE IL T M 2 Printed by Bodoni, Bergen, Norway 4 9 1 9 6 Trykksak Copyright © 2012 William Howlett NEUROLOGY IN AFRICA is freely available to download at Bergen Open Research Archive (https://bora.uib.no) www.uib.no/cih/en/resources/neurology-in-africa ISBN 978-82-7453-085-0 Notice/Disclaimer This publication is intended to give accurate information with regard to the subject matter covered. However medical knowledge is constantly changing and information may alter. It is the responsibility of the practitioner to determine the best treatment for the patient and readers are therefore obliged to check and verify information contained within the book. This recommendation is most important with regard to drugs used, their dose, route and duration of administration, indications and contraindications and side effects. The author and the publisher waive any and all liability for damages, injury or death to persons or property incurred, directly or indirectly by this publication. CONTENTS MOVEMENT DISORDERS AND MOTOR NEURONE DISEASE 329 PARKINSON’S DISEASE (PD) � � � � � � � � � � �