Myopathy Associated with Pigmentary Degene- Ration

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EM Guidemap - Myopathy and Myoglobulinuria

myopathy EM guidemap - Myopathy and myoglobulinuria Click on any of the headings or subheadings to rapidly navigate to the relevant section of the guidemap Introduction General principles ● endocrine myopathy ● toxic myopathy ● periodic paralyses ● myoglobinuria Introduction - this short guidemap supplements the neuromuscular weakness guidemap and offers the reader supplementary information on myopathies, and a short section on myoglobulinuria - this guidemap only consists of a few brief checklists of "causes of the different types of myopathy" that an emergency physician may encounter in clinical practice when dealing with a patient with acute/subacute muscular weakness General principles - a myopathy is suggested when generalized muscle weakness involves large proximal muscle groups, especially around the shoulder and proximal girdle, and when the diffuse muscle weakness is associated with normal tendon reflexes and no sensory findings - a simple classification of myopathy:- Hereditary ● muscular dystrophies ● congenital myopathies http://www.homestead.com/emguidemaps/files/myopathy.html (1 of 13)8/20/2004 5:14:27 PM myopathy ● myotonias ● channelopathies (periodic paralysis syndromes) ● metabolic myopathies ● mitochondrial myopathies Acquired ● inflammatory myopathy ● endocrine myopathies ● drug-induced/toxic myopathies ● myopathy associated with systemic illness - a myopathy can present with fixed weakness (muscular dystrophy, inflammatory myopathy) or episodic weakness (periodic paralysis due to a channelopathy, metabolic myopathy
Study & Evaluation Scheme Of

Study & Evaluation Scheme Of Bachelor of Physiotherapy [Applicable w.e.f. Academic Session 2013-14 till revised] [with revision approved by AC/EC meeting date September 21, 2013] TEERTHANKER MAHAVEER UNIVERSITY N.H.-24, Delhi Road, Moradabad, Uttar Pradesh-244001 Website: www.tmu.ac.in BPT Revised Syllabus Applicable w.e.f. Academic Session 2013-14 [21092013] Page 1 TEERTHANKER MAHAVEER UNIVERSITY (Established under Govt. of U. P. Act No. 30, 2008) Delhi Road, Bagarpur, Moradabad (U.P) Study & Evaluation Scheme of Bachelor of Physiotherapy SUMMARY Programme : Bachelor of Physiotherapy (BPT) Four years full time and six months internship (Annual Duration : System) Medium : English Minimum Required Attendance : 75 % (Theory) 80 % (Lab) Maximum Credits : 104 Minimum credits required for the degree : 104 Internal External Total Assessment (Theory) : 30 70 100 Class Class Class Assignment(s) Other Total Test Test Test Activity I II III (including Internal Evaluation (Theory Best two out of the attendance Papers) three 10 10 10 5 5 30 Internal External Total Evaluation Lab/Dissertations & Project 50 50 100 : Reports External Internal Duration of Examination : 3 hrs. 1 ½ hr. To qualify the course a student is required to secure a minimum of 50% marks in each subject including the year-end examination and teacher’s continuous evaluation (i.e. both internal and external). A candidate, who secures less than 50% marks in the year end examination, shall be deemed to have failed in that subject/course(s). To be eligible for the next year-end examination, a candidate must not have failed in more than two papers. Failure to fulfil this requirement will cause the student either to revert back to corresponding junior batch of students and continue his/her studies with them for rest of the program or clear the backlog as an external/ reappear candidate.
Gait Disorders

What are the classical Gait Patterns for the Following Conditions? • Alzheimers Disease Gait Disorders • Hemiparetic Stroke • Parkinsons Disease T.Masud • Osteomalacia Nottingham University Hospitals NHS Trust • Lateral popliteal nerve palsy University of Nottingham University of Derby • Knee OA University of Southern Denmark • Vitamin B12 deficiency with dorsal column loss Statistical summaries of risk factors for falls From cohort studies- Perell 2001 RISK FACTOR Mean RR/OR Range Muscle weakness 4.4 (1.5-10.3) Falls history 3.0 (1.7-7.0) Gait deficit 2.9 (1.3-5.6) Balance deficit 2.9 (1.6-5.4) Use of assistive devices 2.6 (1.2-4.6) Visual deficit 2.5 (1.6-3.5) Arthritis 2.4 (1.9-2.7) Impaired ADLs 2.3 (1.5-3.1) Depression 2.2 (1.7-2.5) Cognitive impairment 1.8 (1.0-2.3) Age > 80 1.7 (1.1-2.5) Simple Model for Balance Balance Vision FALLS Vestibular Musculo- skeletal Proprioception Tactile sensation Activity & environmental hazards CNS Gait cycle [weight bearing] [progress] Running: stance 50% - swing 50%, then Asymmetry no double support period Stance phase Condition Disabled: increased bilateral stance phase Pain, weakness to increase double support period Impaired balance: vestibular, cerebellum dysfunction Clinical gait analysis Pattern Recognition of Gait Pattern recognition Hemiplegic Parkinsonian - Most quickly, recall from memory Apraxic Structured Approach Neuropathic - Hypothetico-deductive Ataxic - Basic gait knowledge / Anatomy Waddling Exhaustive strategy Spastic - Comprehensive and systematic evaluation Hyperkinetic Antalgic Gait Disorder in Older People High Level Gait Disorders by level of Sensorimotor Deficit Frontal Related • Apraxic •Cerebrovascular • Magnetic Low • Freezing High Middle •Dementia Level Level Level From- Alexander, Goldberg, Cleveland Clinic J Med 2005; 72: 592-600 High Level Gait Disorders High Level Gait Disorders Frontal Related Frontal Related •Cerebrovascular •Cerebrovascular •Dementia •Dementia •N.P.
National Consensus on Diagnosis, Treatment and Prevention of Hereditary Neuromuscular Disorders

National consensus on diagnosis, treatment and prevention of hereditary neuromuscular disorders Edited by Acad. prof. I. Milanov, Prof. I. Tournev, Assoc. Prof. T. Chamova, Sofia, 31.01.2019 At the initiative of: Bulgarian Society of Neuromuscular Diseases Bulgarian Society of Neurology Bulgarian Society of Child Neurology, Psychiatry and Developmental Psychology 2 Contents Used abbreviations ...........................……………………………………………....3 Introduction ........................................................................................................5 Muscle disorders.......................................................................... .......... ..........5 Congenital Muscular Dystrophies.......................................................................5 Congenital myopathies......................................................................................12 Duchenne/Becker muscular dystrophy ……......................................................16 Limb-girdle muscular dystrophies.....................................................................25 Facioscapulohumeral dystrophy.......................................................................34 Еmery-Dreifuss muscular dystrophy.................................................................35 Metabolic myopathies ......................................................................................36 Distal myopathies .............................................................................................42 Myotonia and myotonic dystrophies .................................................................45
Emqs in CLINICAL MEDICINE This Page Intentionally Left Blank Emqs in CLINICAL MEDICINE

EMQs in CLINICAL MEDICINE This page intentionally left blank EMQs in CLINICAL MEDICINE Irfan Syed BSc (Hons), MBBS PRHO University College Hospital, London & Royal Sussex County Hospital, Brighton, UK Editorial Advisors: Aroon Hingorani MA, FRCP, PhD BHF Senior Fellow, Reader and Honorary Consultant Physician, BHF Laboratories, University College London, Centre for Clinical Pharmacology, Department of Medicine, London, UK Raymond MacAllister MA, MD, FRCP Reader in Clinical Pharmacology and Honorary Consultant Physician, BHF Laboratories, University College London, Centre for Clinical Pharmacology, Department of Medicine, London, UK Patrick Vallance BSc (Hons), MD, FRCP, FMedSci Head, Division of Medicine, Professor of Medicine, University College London, The Rayne Institute, London, UK A member of the Hodder Headline Group LONDON First published in Great Britain in 2004 by Arnold, a member of the Hodder Headline Group, 338 Euston Road, London NW1 3BH http://www.arnoldpublishers.com Distributed in the United States of America by Oxford University Press Inc., 198 Madison Avenue, New York, NY10016 Oxford is a registered trademark of Oxford University Press © 2004 Irfan Syed All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronically or mechanically, including photocopying, recording or any information storage or retrieval system, without either prior permission in writing from the publisher or a licence permitting restricted copying. In the United Kingdom such licences are issued by the Copyright Licensing Agency: 90 Tottenham Court Road, London W1T 4LP. Whilst the advice and information in this book are believed to be true and accurate at the date of going to press, neither the author[s] nor the publisher can accept any legal responsibility or liability for any errors or omissions that may be made.
Mining the Brain to Predict Gait Characteristics: a BCI Study

UNIVERSIDADE DE LISBOA FACULDADE DE CIÊNCIAS DEPARTAMENTO DE FÍSICA Mining the Brain to Predict Gait Characteristics: A BCI study Inês Isabel Rodrigues Domingos Mestrado Integrado em Engenharia Biomédica e Biofísica Perfil em Sinais e Imagens Médicas Dissertação orientada por: Professor Guang-Zhong Yang Professor Alexandre Andrade 2018 “Never give up on what you really want to do. The person with big dreams is more powerful than one with all the facts.” ― Albert Einstein Acknowledgements First, I would like to thank to the Erasmus+ Program and to the University of Lisbon for given me the financial support to carry this project in London. I must acknowledge Professor Guang-Zhong Yang and Dr Fani Deligianni, for the warm welcome in the Hamlyn Centre group and for all the academic support. It was as honour to work under their supervision. I must also acknowledge my internal supervisor, Professor Alexandre Andrade, for the support during my thesis. I would also like to acknowledge Jian-Qing Zheng, Jahanshah Fathi, Miao Sun and Dan-Dan Zhang for their help and contribution. A big thank you to my friends, Mariana and Joana, for sharing this amazing experience with me and for always being there when I needed. This journey would not have been possible without the support of my family. To my grandparents, thank you for supporting me through all these years. Finally, I must express my very profound gratitude to my biggest support in life, my parents, who supported me emotionally and financially. Without them, this thesis wouldn’t have been possible. I owe everything I am today, and everything I accomplished, to them.
Examination of Gait

PACES (CNS- Gait) Adel Hasanin Ahmed CNS - GAIT STEPS OF EXAMINATION Step 1: Approach the patient Read the instructions carefully for clues Shake hands, introduce yourself Ask few questions “Could you tell me your name please? Are you right- or left-handed? Are you quite comfortable? Do you feel pain anywhere?” Ask permission to examine him Step 2: General inspection: Bedside: walking stick, shoes-callipers, built-up heels General appearance: scan the patient quickly looking for: . Nutritional status (under/average built or overweight) . Abnormal movement or posture (rest or intention tremors, dystonia, choreoathetosis, hemiballismus, Myoclonic jerks, tics, pyramidal posture) . Abnormal facial movements (hemifacial spasm, facial myokymia, blepharospasm, oro-facial dyskinesia) . Facial asymmetry (hemiplegia) . Nystagmus (cerebellar syndrome) . Facial wasting (muscular dystrophy) . Sad, immobile, unblinking facies (Parkinson’s disease) . Peroneal wasting (Charcot-Marie-Tooth disease) . Pes cavus (Friedreich’s ataxia, Charcot-Marie-Tooth disease) Hands: tell the patient “outstretch your hands like this (palms facing downwards)”… then “like this (palms facing upwards)” . Check for wasted hands (MND, Charcot-Marie-Tooth disease, syringomyelia) . feel the radial pulse (AF → thromboembolism) Step 3: Ask the patient “Can you walk without help? I will stay with you in case of any problems”. Notice any cerebellar dysarthria during his reply. Step 4: Ask him to walk to a defined point, turn and walk back. Look at the patient from behind,
Gait Disorders in Elderly

Gait disorders in elderly By R2 Phatharajit Phatharodom Page 1 Introduction • Gait disorders are common in elderly populations • Prevalence increases with age • At the age of 60 years, 85% of people have a normal gait • At the age of 85 years or older this proportion has dropped to 18% Nielsen JB. How we walk: central control of muscle activity during human walking. Neuroscientist 2003; 9: 195–204. Page 2 Introduction • Gait disorders have devastating consequences falling reduction of mobility loss of independence • Gait disturbances—even when they present in isolation— can reflect an early, preclinical, underlying cerebrovascular or neurodegenerative disease Page 3 Outline • Pathophysiology of gait • Anatomical aspects of gait • Gait and mental function • Effect of normal ageing on locomotion and gait • Specific gait disorders – Neurological gait disorders – Non-neurological gait disorders Page 4 Pathophysiology of gait disorders • Normal gait requires a delicate balance between various interacting neuronal systems – Locomotion- including initiation and maintenance of rhythmic stepping – Balance – Ability to adapt to the environment Lancet Neurol 2007; 6: 63–74 Page 5 Pathophysiology of gait disorders • The control of gait and posture is multifactorial, and a defect at any level of control can result in a gait disorder Lancet Neurol 2007; 6: 63–74 Page 6 Anatomical aspects of gait • Poorly understood in humans • Brainstem locomotor centers reticulospinal and vestibulospinal projection in ventromedial descending brainstem pathways conveys
Neuromuscular Update I

Neuromuscular Update I Kerry H. Levin MD Steven J. Shook MD Greg T. Carter, MD, MS Dianna Quan, MD James W. Teener, MD Mohammad K. Salajegheh, MD Anthony A. Amato, MD 2009 Neuromuscular Update Course C AANEM 56th Annual Meeting San Diego, California Copyright © October 2009 American Association of Neuromuscular & Electrodiagnostic Medicine 2621 Superior Drive NW Rochester, MN 55901 Printed by Johnson Printing Company, Inc. ii Neuromuscular Update I Faculty Anthony A. Amato, MD Kerry H. Levin, MD Department of Neurology Chairman, Department of Neurology Brigham and Women’s Hospital Director, Neuromuscular Center Harvard Medical School Cleveland Clinic Boston, Massachusetts Cleveland, Ohio Dr. Amato is the vice-chairman of the department of neurology and the Dr. Levin received his bachelor’s degree and his medical degree from Johns director of the neuromuscular division and clinical neurophysiology labo- Hopkins University in Baltimore, Maryland. He then performed a resi- ratory at Brigham and Women’s Hospital (BWH/MGH) in Boston. He is dency in internal medicine at University Hospitals of Cleveland, followed also professor of neurology at Harvard Medical School. He is the director by a neurology residency at the University of Chicago Hospitals, where he of the Partners Neuromuscular Medicine fellowship program. Dr. Amato served as chief resident. He is currently chairman of the Department of is an author or co-author on over 150 published articles, chapters, and Neurology and director of the Neuromuscular Center at Cleveland Clinic. books. He co-wrote the textbook Neuromuscular Disorders with Dr. James Dr. Levin is also professor of medicine at the Cleveland Clinic College Russell.
Oxford American Handbook of Neurology Published and Forthcoming Oxford American Handbooks

Oxford American Handbook of Neurology Published and Forthcoming Oxford American Handbooks Oxford American Handbook of Clinical Medicine Oxford American Handbook of Anesthesiology Oxford American Handbook of Clinical Dentistry Oxford American Handbook of Clinical Diagnosis Oxford American Handbook of Clinical Pharmacy Oxford American Handbook of Critical Care Oxford American Handbook of Emergency Medicine Oxford American Handbook of Geriatric Medicine Oxford American Handbook of Nephrology and Hypertension Oxford American Handbook of Neurology Oxford American Handbook of Obstetrics and Gynecology Oxford American Handbook of Oncology Oxford American Handbook of Otolaryngology Oxford American Handbook of Pediatrics Oxford American Handbook of Physical Medicine and Rehabilitation Oxford American Handbook of Psychiatry Oxford American Handbook of Pulmonary Medicine Oxford American Handbook of Rheumatology Oxford American Handbook of Sports Medicine Oxford American Handbook of Surgery Oxford American Handbook of Neurology Edited by Sid Gilman William J. Herdman Distinguished University Professor of Neurology University of Michigan School of Medicine Ann Arbor, Michigan with Hadi Manji Sean Connolly Neil Dorward Neil Kitchen Amrish Mehta Adrian Wills 1 3 Oxford University Press, Inc. publishes works that further Oxford University’s objective of excellence in research, scholarship and education. Oxford New York Auckland Cape Town Dar es Salaam Hong Kong Karachi Kuala Lumpur Madrid Melbourne Mexico City Nairobi New Delhi Shanghai Taipei Toronto With ofﬁ ces in Argentina Austria Brazil Chile Czech Republic France Greece Guatemala Hungary Italy Japan Poland Portugal Singapore South Korea Switzerland Thailand Turkey Ukraine Vietnam Copyright © 2010 by Oxford University Press, Inc. Published by Oxford University Press Inc. 198 Madison Avenue, New York, New York 10016 www.oup.com Oxford is a registered trademark of Oxford University Press First published 2010 All rights reserved.
WO 2016/073510 Al 12 May 2016 (12.05.2016) W P O P C T

(12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date WO 2016/073510 Al 12 May 2016 (12.05.2016) W P O P C T (51) International Patent Classification: (81) Designated States (unless otherwise indicated, for every A61K 9/48 (2006.01) A61K 31/13 (2006.01) kind of national protection available): AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, (21) International Application Number: BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, PCT/US20 15/058872 DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, (22) International Filing Date: HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KR, 3 November 20 15 (03 .11.20 15) KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, (25) Filing Language: English PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, (26) Publication Language: English SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (30) Priority Data: 62/075,137 4 November 2014 (04. 11.2014) US (84) Designated States (unless otherwise indicated, for every kind of regional protection available): ARIPO (BW, GH, (71) Applicant: ADAMAS PHARMACEUTICALS, INC. GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, [US/US]; 1900 Powell Street, Suite 750, Emeryville, Cali TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, fornia 94608 (US).
Abetalipoproteinemia [OMIM#200100]

A Abetalipoproteinemia [OMIM#200100] Bassen–Kornzweig syndrome Bassen and Kornzweig first described the association of a progressive ataxic syn- drome with fat malabsorption, atypical retinitis pigmentosa, and acanthocytosis with a lack of serum betalipoproteins in two siblings of consanguineous parents in the 1950s. Abetalipoproteinemia is a rare autosomal recessive condition character- ized by the defective assembly and secretion of apolipoprotein-B-containing lipo- proteins, which are required for secretion of plasma lipoproteins that contain apolipoprotein B. In consequence, there are very low plasma concentrations of cholesterol and triglyceride, and of fat-soluble vitamins, especially vitamin E, which produces the clinical features of peripheral neuropathy, retinitis pigmentosa, and cerebellar degeneration. The condition is caused by mutations in the gene cod- ing for microsomal triglyceride transfer protein (MTP) on chromosome 4q22-24, a protein required for the assembly of lipoproteins which contain apolipoprotein B. A related condition, hypobetalipoproteinemia, is inherited in an autosomal domi- nant fashion, with a defect in the apolipoprotein-B gene in some cases, and in the homozygous state may be indistinguishable from abetalipoproteinemia. Clinical features • Malabsorption: steatorrhea, with failure to thrive in children. • Retinal degeneration: usually before the age of 10 years, with impaired night vision (nyctalopia) initially, and progressive retinitis pigmentosa; vita- min A deficiency may be significant. However, visual impairment is seldom severe. • Peripheral neuropathy: a sensorimotor neuropathy with areflexia is often the presenting feature and is usually present by 10–30 years of age; vitamin E deficiency may be significant. • Ataxic syndrome: with dysarthria, nystagmus, and head titubation. It results from a combination of peripheral neuropathy, spinocerebellar tract degen- eration, and direct cerebellar damage (i.e., sensory and cerebellar ataxia); vitamin E deficiency may be significant.