DOCSLIB.ORG

Paroxysmal Movement Disorders Paroxysmal Dyskinesias

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Paroxysmal Movement Disorders Paroxysmal Dyskinesias 7/16/2020 PAROXYSMAL MOVEMENT DISORDERS Kapil D Sethi MD FAAN FRCP(UK) Professor Emeritus of Neurology MCG a unit of Augusta University Augusta Georgia PAROXYSMAL DYSKINESIAS What is not considered to be a Paroxysmal Dyskinesia? 1. Action/Task Specific Dystonia 2. Tics - can occur in bursts 3. Paroxysmal Exaggeration of Tremor 4. Action Myoclonus 1 7/16/2020 PAROXYSMAL MOVEMENT DISORDERS • Paroxysmal Dyskinesias-Primary and Secondary • Episodic Ataxias • Alternating Hemiplegia of Childhood • Paroxysmal Tremor • Paroxysmal Torticollis of Infancy 2 7/16/2020 PAROXYSMAL DYSKINESIAS (PDYS) • Heterogeneous -characterized by the abrupt onset of abnormal involuntary movements usually out of a background of normal motor behavior • A combination of chorea, ballism and dystonia. PAROXYSMAL DYSKINESIAS • Four groups PKD,PNKD,?PHD,PED • -Idiopathic (primary) or secondary • Idioathic group may be familial or sporadic • Overlaps 3 7/16/2020 PAROXYSMAL KINESIGENIC DYSKINESIA • Precipitated by sudden movement or startle and sometimes by stress • Frequency up to 100 per day • Sensory aura and a refractory period • Asymmetric dystonia • common while others may have chorea PKD-PROPOSED CRITERIA Bruno MK, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004;63(12):2280-2287 doi:10.1212/01.wnl.0000147298.05983.50 Bruno et al 2004 4 7/16/2020 PAROXYSMAL NONKINESIGENIC DYSKINESIA • Precipitated factors - alcohol,fatigue,and caffeine. • In one series 98% of cases with MFR-1 mutation had this clinical correlate.(Bruno,2007) • Predominant dystonia in some and some have chorea. • Frequency 3/day to 2/year. • Duration minutes to hours 5 7/16/2020 PAROXYSMAL EXERCISE-INDUCED DYSKINESIA • Usually dominant • Overlap between PNKD and PED. • PED may precede parkinsonism (Bruno MK, 2004) • DRD patients may have PED at beginning 6 7/16/2020 GLUT 1 DEFICIENCY SYNDROME • Expanding phenotype • Classical (De Vivo 1991) - majority of cases, usually de novo • DD, seizures, acquired microcephaly, variable ataxia/spasticity/dystonia • New phenotypes emerging - milder, adult onset, often familial – Infancy onset MD without seizures – Familial PED and epilepsy (+/- haemolytic anaemia), sporadic PED – Carbohydrate responsive phenotypes – PED, Writer’s cramp,migraine and absence seizures – Absence seizures • DYT 9 – paroxysmal choreoathetosis/spasticity, with episodic ataxia (Auburger 1996) + these twins – Realignment with DYT 18 (GLUT1-DS due to SLC2A1 mutations) A few caveats about PED Video in Presentation Courtesy Kailash Bhatia 7 7/16/2020 8 year boy- intermittent dystonia of either/both sides, legs>arms, attacks lasting several hours Full recovery between episodes Not provoked by sudden movement or by exercise Clinical phenotype Paroxysmal Non-kinesigenic Dyskinesia Videos of clinical Episodes Symptoms could be Right sided Left sided Bilateral last for several hours Some disabling Falls 8 7/16/2020 MRI BRAIN Bilateral pallidal Hyperintensities Other sequences T1- Normal SWI- Normal Homozygous PDHB Mutation T2 MRI ECHS1 MUTATIONS AND PED Olgiati et al Movement Disorders, Vol. 31, No. 7, 2016 9 7/16/2020 ? PAROXYSMAL HYPNOGENIC DYSKINESIA • First description by Joynt and Green in a patient with multiple sclerosis. • Attacks occur during Non-REM sleep. • Mdial frontal lobe seizures in most cases. • ADCY 5 mutation carriers my have predominantly night time attacks and some individuals with mixed PKD and PNKD may have nighttime attacks A 9 YEAR OLD GIRL WITH PAROXYSMS • 1. Arching • 2. Vertical ocular oscillations • 3. Right body stiffening • Age 8, occurring daily, lasts minutes to hours • Exam • Increased tone LE bilaterally with hyperreflexia • Slow, wide based gait 10 7/16/2020 ATP1A3 GENE MUTATION • ATP1A3 • Chromosome 19q13.31 • ATPase, Na+/K+ transporting, alpha 3 polypeptide • Mutations in alpha 3 subunit associated associated with • Alternating Hemiplegia of Childhood • Rapid-onset Dystonia Parkinsonism • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) GENETICS 11 7/16/2020 GENETICS OF PKD THE RICH AREA ON CHROMOSOME 16 PROLINE RICH TRANSMEMBRANE PROTEIN 2(PRRT2) LOCATION OF 23 MUTATIONS IN PKD Brain. 2011 Dec;134(Pt 12):3493-3501. Epub 2011 Nov 26. 12 7/16/2020 PRRT2 FUNCTION PHENOTYPIC HETEROGENEITY IN PRRT2 MUTATIONS • Paroxysmal Kinesigenic Dyskinesia • Benign Familial Infantile Convulsions • ICCA Syndrome • Febrile Infantile Convulsions • Nocturnal Convulsions • Classic Migraine with PKD • Hemiplegic Migraine • Episodic Ataxia • Paroxysmal Nonkinesigenic Dyskinesia • Paroxysmal Exertional Dyskinesia Liu et al J Med Genetics,2011;49:79-82 Gurreni and Mink; Neurology 2012;79;2086 13 7/16/2020 PNKD- GENETICS • Mutations in the Myofibrillogenesis regulator gene.(MR-1) on chromosome 2q • Substitution of alanine to valine (Lee,2004) • Later onset PNKD like patients may not have this mutation. • Some reported PNKD families lack this mutation. (Spacey,2006) • Another locus for PNKD and generalized epilepsy on chromosome 10q22– a calcium sensitive K channelopathy (Nature Genetics ,2005) 14 7/16/2020 SECONDARY PAROXYSMAL DYSKINESIAS • Multiple sclerosis • Cerebral Palsy • Hypoparathyroidism and pseudohypoparathyroidism • Hypoglycemia • Head trauma • Cerebrovascular disease • Neuroacanthocytosis • Psychogenic MISCELLANEOUS CAUSES OF SEC PDX • Cytomegalovirus Encephalitis • Neurosarcoidosis • Migraine • Cervical Cord lesions • Primary CNS Lymphoma • Kernicterus • Hypoglycemia • Urea Cycle defects and aminoacidurias 15 7/16/2020 SECONDARY PAROXYSMAL DYSKINESIA- MULTIPLE SCLEROSIS • Known as tonic seizures • Presenting feature in some. • Unilateral , bilateral attacks described more in the Japanese.\ • Hyperventilation precipitates the attack. Painful 16 7/16/2020 POSTTRAUMATIC PKD Video in Presentation SECONDARY PAROXYSMAL DYSKINESIA - VASCULAR • PDys as a manifestation of TIA’s • Limb shaking TIA well described in the literature • These attacks may herald a major infarction • A variant is orthostatic paroxysmal dystonia in severe bilateral large vessel disease 17 7/16/2020 VASCULAR PDYS Video in Presentation CTA NECK 18 7/16/2020 Courtesy Dr Balamurugan METABOLIC DISORDERS • PNKD in hypoparathyroidism • PNKD and PKD in pseudohypoparathyroid ism (Dure,1998) • May respond to Vitamin D and Calcium 19 7/16/2020 Video in Presentation FACIOBRACHIAL DYSTONIC SEIZURES (FBDS) • Late-onset, frequent and brief (often<5 secs) • Involve Upper limb, face and are dystonic in nature. • VGKC-complex antibodies and/or LGI1- antibody • Hyponatremia (SIADH) • Skin rash with anticonvulsants • May respond to immunotherapy 20 7/16/2020 SANDIFER SYNDROME Video in Presentation PSYCHOGENIC PAROXYSMAL DYSKINESIA-CLINICAL FEATURES • Mean age of onset 38.6 years. • Female predominance (73%). • Most had long attacks • High within-subject variability for • Attack phenomenology, duration and frequency • 69.2% of the patients had mixed or complex PxD Unusual Triggers • Unusual alleviating strategies 21 7/16/2020 PAROXYSMAL DYSKINESIAS- MANAGEMENT • Look for an underlying cause especially if the age of onset is atypical as in adulthood • Anticonvulsants in low dosages for PKD (almost all anticonvulsants have been used) PAROXYSMAL DYSKINESIAS MANAGEMENT • PNKD does not respond well to drugs. Levitracetam may be beneficial. Alternate day oxazepam, l-dopa and rarely botulinum toxin. • Rare severe cases thalamic or GPi stimulation (T.J. Loher et al Neurology 2001,Yamada,2006, Kaufmann,2009) • Short lasting PHD may respond to anticonvulsants 22 7/16/2020 PAROXYSMAL DYSKINESIAS -TREATMENT • PED- Hard to treat. Restrict exercise. • Some cases respond to levodopa • GLUT-1 cases ketogenic diet • Secondary PDys in MS - carbamazepine and/or acetazolamide • Address underlying disorders. 23.
Load more

Recommended publications
  • 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.
    [Show full text]
  • Treatment of Autonomic Dysreflexia for Adults & Adolescents with Spinal
    Treatment of Autonomic Dysreflexia for Adults & Adolescents with Spinal Cord Injuries Authors: Dr James Middleton, Director, State Spinal Cord Injury Service, NSW Agency for Clinical Innovation. Dr Kumaran Ramakrishnan, Honorary Fellow, Rehabilitation Studies Unit, Sydney Medical School Northern, The University of Sydney, and Consultant Rehabilitation Physician & Senior Lecturer, Department of Rehabilitation Medicine, University Malaya. Dr Ian Cameron, Head of the Rehabilitation Studies Unit, Sydney Medical School Northern, The University of Sydney. Reviewed and updated in 2013 by the authors. AGENCY FOR CLINICAL INNOVATION Level 4, Sage Building 67 Albert Avenue Chatswood NSW 2067 PO Box 699 Chatswood NSW 2057 T +61 2 9464 4666 | F +61 2 9464 4728 E [email protected] | www.aci.health.nsw.gov.au Produced by the NSW State Spinal Cord Injury Service. SHPN: (ACI) 140038 ISBN: 978-1-74187-972-8 Further copies of this publication can be obtained from the Agency for Clinical Innovation website at: www.aci.health.nsw.gov.au Disclaimer: Content within this publication was accurate at the time of publication. This work is copyright. It may be reproduced in whole or part for study or training purposes subject to the inclusion of an acknowledgment of the source. It may not be reproduced for commercial usage or sale. Reproduction for purposes other than those indicated above, requires written permission from the Agency for Clinical Innovation. © Agency for Clinical Innovation 2014 Published: February 2014 HS13-136 ACKNOWLEDGEMENTS This document was originally published as a fact sheet for the Rural Spinal Cord Injury Project (RSCIP), a pilot healthcare program for people with a spinal cord injury (SCI) conducted within New South Wales involving the collaboration of Prince Henry & Prince of Wales Hospitals, Royal North Shore Hospital, Royal Rehabilitation Centre Sydney, Spinal Cord Injuries Australia and the Paraplegic & Quadriplegic Association of NSW.
    [Show full text]
  • Scienti®C Review Spastic Movement Disorder
    Spinal Cord (2000) 38, 389 ± 393 ã 2000 International Medical Society of Paraplegia All rights reserved 1362 ± 4393/00 $15.00 www.nature.com/sc Scienti®c Review Spastic movement disorder V Dietz*,1 1Paracare, Paraplegic Centre of the University Hospital Balgrist, ZuÈrich, Switzerland This review deals with the neuronal mechanisms underlying spastic movement disorder, assessed by electrophysiological means with the aim of ®rst, a better understanding of the underlying pathophysiology and second, the selection of an adequate treatment. For the patient usually one of the ®rst symptoms of a lesion within the central motor system represents the movement disorder, which is most characteristic during locomotion in patients with spasticity. The clinical examination reveals exaggerated tendon tap re¯exes and increased muscle tone typical of the spastic movement disorder. However, today we know that there exists only a weak relationship between the physical signs obtained during the clinical examination in a passive motor condition and the impaired neuronal mechanisms being in operation during an active movement. By the recording and analysis of electrophysiological and biomechanical parameters during a functional movement such as locomotion, the signi®cance of, for example, impaired re¯ex behaviour or pathophysiology of muscle tone and its contribution to the movement disorder can reliably be assessed. Consequently, an adequate treatment should not be restricted to the cosmetic therapy and correction of an isolated clinical parameter but should be based on the pathophysiology and signi®cance of the mechanisms underlying the disorder of functional movement which impairs the patient. Spinal Cord (2000) 38, 389 ± 393 Keywords: spinal cord injury; spasticity; electrophysiological recordings; treatment Introduction Movement disorders are prominent features of impaired strength of electromyographic (EMG) activation of function of the motor systems and are frequently best antagonistic leg muscles as well as intrinsic and passive re¯ected during gait.
    [Show full text]
  • Nocturnal Leg Cramps: Is There Any Relief?
    Nocturnal leg cramps: is there any relief? Nocturnal leg cramps are common, particularly in older people and in women who are pregnant. The condition is characterised by painful cramps in the legs or feet, that affect sleep quality. Is there an effective treatment? Unfortunately, treatment options are limited, but lifestyle modifications and gentle stretching may have some effect. Pharmacological treatment may be considered for people with frequent, severe leg cramps, however, quinine is no longer recommended. What are nocturnal leg cramps? Factors known to be associated with an increased risk of nocturnal cramping, include:1 A nocturnal leg cramp is a sudden contraction of muscles in the leg or foot during sleep. This painful tightening of the Age over 50 years muscle can last from a few seconds to several minutes. Cramps Pregnancy often cause waking, and although the cramps themselves are Exercise, particularly over-exertion benign, the affected muscle may be painful for some hours Leg positioning, e.g. prolonged sitting with legs afterwards and the consequences of sleep impairment can be crossed, tight bed covers which cause the toes to point considerable. downwards Excessive consumption of alcohol Severe nocturnal cramps are characterised by painful, incapacitating episodes, which last on average for nine Chronic dehydration minutes, and recur intermittently throughout the night.1 Structural disorders, e.g. flat feet or other foot and ankle This can lead to secondary insomnia and impaired day-time malformations functioning. Approximately 20% of people who experience Medicines, e.g. diuretics (especially thiazide and regular nocturnal cramps have symptoms severe enough to potassium-sparing diuretics), some anti-inflammatories affect sleep quality or require medical attention.1 (e.g.
    [Show full text]
  • Limb Dystonia Including Writer's Cramp
    Limb dystonia including writer’s cramp Limb dystonia can occur in primary dystonias or as a complication in neurodegenerative diseases e.g. Huntington’s disease, Wilson’s disease or Parkinson syndromes or other diseases like structural brain damage, peripheral trauma or drug-induced. Any muscle group under voluntary control can be affected, dystonic muscle overactivity can occur during rest, be aggravated by movement, or occur only during voluntary movement (action dystonia). If the dystonia is triggered by a specific task, it is called “task-specific” dystonia and affects mostly the hand. As task-specific dystonia causes most disability and is the greatest therapeutic challenge, this summary will focus mainly on this form of limb dystonia. Exercises with a repetitive movement pattern such as writing, typing or playing musical instruments are predestinated to this type of dystonia (1). Co-contraction of agonist and antagonist muscles lead to abnormal postures and movements sometimes associated with tremor or myoclonic jerks. This leads to disability in occupations with repetitive fine motor tasks. The underlying pathophysiology why some individuals develop such a task-specific dystonia and others not, despite of maybe excessive overuse of the hand remains unclear. Safety and efficacy of botulinum toxin has been well established during decades of use (2). Pathophysiology Numerous studies in task-specific dystonias have shown abnormalities within the basal ganglia and its circuits, decreased inhibition at various levels of the sensorimotor system, abnormal plasticity and impaired sensorimotor processing (3). MRI- based volumetric techniques have shown changes in the basal ganglia, thalamus and gray matter of the sensorimotor cortex (4).
    [Show full text]
  • Physiotherapy of Focal Dystonia: a Physiotherapists Personal Experience
    European Journal of Neurology 2010, 17 (Suppl. 1): 107–112 doi:10.1111/j.1468-1331.2010.03061.x Physiotherapy of focal dystonia: a physiotherapistÕs personal experience J.-P. Bleton Universite´ Paris Descartes INSERM U894, Service de Neurologie, Hoˆpital Sainte-Anne, Paris, France Keywords: The approach of the physiotherapist to each form of dystonia is individual and has to dystonia, physiotherapy, be specific. There is not one single method but several strategies related to the different cervical dystonia, writerÕs clinical forms. Although there is no standard programme applicable to all forms of cramp, writing tremor, cervical dystonia, we can distinguish a number of guidelines for the different clinical relaxation, pen grip forms. In the myoclonic form, emphasis is placed on seeking to immobilize the head, training and for the tonic form, on rehabilitating corrector muscles. Physiotherapy and bot- ulinum toxin injections mutually interact in order to reduce the symptoms. Recent Received 3 August 2009 studies have shown the clinical benefits of physiotherapy. The physiotherapy of wri- Accepted 5 March 2010 terÕs cramp is designed as a re-learning process. The first step is to perform exercises to improve independence and precision of fingers and wrist movements. Then, the muscles involved in the correction of dystonic postures are trained by drawing loops, curves and arabesques. The aim of rehabilitation is not to enable patients with writerÕs cramp to write as they used to, but to help their dysgraphia evolve towards a fast, fluid and effortless handwriting. A reshaping of the sensory cortical hand representation appears to be associated with clinical improvement in patients with dystonia after rehabilitation.
    [Show full text]
  • 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.
    [Show full text]
  • Non-Progressive Congenital Ataxia with Cerebellar Hypoplasia in Three Families
    248 Non-progressive congenital ataxia with cerebellar hypoplasia in three families . No 1.6 Z. YAPICI & M. ERAKSOY . .. I.Y.. \ .~ ---················ No of Neurology, of Child Neuro/ogy, Facu/ty of Turkey Abstract Non-progressive with cerebellar hypoplasia are a rarely seen heterogeneous group ofhereditary cerebellar ataxias. Three sib pairs from three different families with this entity have been reviewed, and differential diagnosis has been di sc ussed. in two of the families, the parents were consanguineous. Walking was delayed in ali the children. Truncal and extremiry were then noticed. Ataxia was severe in one child, moderate in two children, and mild in the remaining revealed horizontal, horizonto-rotatory and/or vertical variable degrees ofmental and pvramidal signs besides truncal and extremity ataxia. In ali the cases, cerebellar hemisphere and vermis were in MRI . During the follow-up period, a gradual clinical improvement was achieved in ali the Condusion: he cu nsidered as recessive in some of the non-progressive ataxic syndromes. are being due to the rarity oflarge pedigrees for genetic studies. Iffurther on and clini cal progression of childhood associated with cerebellar hypoplasia is be a cu mbined of metabolic screening, long-term follow-up and radiological analyses is essential. Key Words: Cerebella r hy poplasia, ataxic syndromes are common during Patients 1 and 2 (first family) childhood. Friedreich 's ataxia and ataxia-telangiectasia Two brothers aged 5 and 7 of unrelated parents arc two best-known examples of such rare syn- presented with a history of slurred speech and diffi- dromes characterized both by their progressive nature culty of gait.
    [Show full text]
  • Autonomic Hyperreflexia Associated with Recurrent Cardiac Arrest
    Spinal Cord (1997) 35, 256 ± 257 1997 International Medical Society of Paraplegia All rights reserved 1362 ± 4393/97 $12.00 Autonomic hyperre¯exia associated with recurrent cardiac arrest: Case Report SC Colachis, III1 and DM Clinchot2 1Associate Professor and 2Assistant Professor, Department of Physical Medicine and Rehabilitation1, Director, SCI Rehabilitation, The Ohio State University, College of Medicine, Columbus, Ohio, USA Autonomic hyperre¯exia is a condition which may occur in individuals with spinal cord injuries above the splanchnic sympathetic out¯ow. Noxious stimuli can produce profound alterations in sympathetic pilomotor, sudomotor, and vasomotor activity, as well as disturbances in cardiac rhythm. A case of autonomic hyperre¯exia in a patient with C6 tetraplegia with recurrent ventricular ®brillation and cardiac arrest illustrates the profound eects of massive paroxysmal sympathetic activity associated with this condition. Keywords: autonomic hyperre¯exia; spinal cord injury; ventricular ®brillation Introduction Autonomic hyperre¯exia is a condition of paroxysmal by excessive sweating and ¯ushing. Past episodes of re¯ex sympathetic activity which occurs in response to autonomic hyperre¯exia were generally attributed to noxious stimuli in patients with spinal cord injuries re¯ex voiding, position changes and the presence of above the major splanchnic sympathetic out¯ow.1±3 pressure sores. The heightened sympathetic activity during an episode The attendant had completed the patient's morning of autonomic hyperre¯exia accounts for several of the bowel program, hygiene and dressing activities, and clinical features commonly observed including sudo- started to exit the apartment when he heard gasping. motor and pilomotor phenomenon,1,4 ± 6 vasomotor He returned to ®nd him pulseless, apneic, and sequelae,1 ± 4,7 and alterations in cardiac inotropic and cyanotic.
    [Show full text]
  • Late-Onset Oro-Facial Dyskinesia in Spinocerebellar Ataxia Type 2: a Case Report Floriana Giardina1†, Giuseppe Lanza2,3*† , Francesco Calì3 and Raffaele Ferri3
    Giardina et al. BMC Neurology (2020) 20:156 https://doi.org/10.1186/s12883-020-01739-8 CASE REPORT Open Access Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report Floriana Giardina1†, Giuseppe Lanza2,3*† , Francesco Calì3 and Raffaele Ferri3 Abstract Background: Genetic familiar causes of oro-facial dyskinesia are usually restricted to Huntington’s disease, whereas other causes are often missed or underestimated. Here, we report the case of late-onset oro-facial dyskinesia in an elderly patient with a genetic diagnosis of Spinocerebellar Ataxia type 2 (SCA2). Case presentation: A 75-year-old man complained of progressive balance difficulty since the age of 60 years, associated with involuntary movements of the mouth and tongue over the last 3 months. No exposure to anti- dopaminergic agents, other neuroleptics, antidepressants, or other drugs was reported. Family history was positive for SCA2 (brother and the son of the brother). At rest, involuntary movements of the mouth and tongue were noted; they appeared partially suppressible and became more evident during stress and voluntary movements. Cognitive examination revealed frontal-executive dysfunction, memory impairment, and attention deficit. Brain magnetic resonance imaging (MRI) disclosed signs of posterior periventricular chronic cerebrovascular disease and a marked ponto-cerebellar atrophy, as confirmed by volumetric MRI analysis. A dopamine transporter imaging scan demonstrated a bilaterally reduced putamen and caudate nucleus uptake. Ataxin-2 (ATXN2) gene analysis revealed a 36 cytosine-adenine-guanine (CAG) repeat expansion, confirming the diagnosis of SCA2. Conclusions: SCA2 should be considered among the possible causes of adult-onset oro-facial dyskinesia, especially when the family history suggests an inherited cerebellar disorder.
    [Show full text]
  • The Genetic Relationship Between Paroxysmal Movement Disorders and Epilepsy
    Review article pISSN 2635-909X • eISSN 2635-9103 Ann Child Neurol 2020;28(3):76-87 https://doi.org/10.26815/acn.2020.00073 The Genetic Relationship between Paroxysmal Movement Disorders and Epilepsy Hyunji Ahn, MD, Tae-Sung Ko, MD Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea Received: May 1, 2020 Revised: May 12, 2020 Seizures and movement disorders both involve abnormal movements and are often difficult to Accepted: May 24, 2020 distinguish due to their overlapping phenomenology and possible etiological commonalities. Par- oxysmal movement disorders, which include three paroxysmal dyskinesia syndromes (paroxysmal Corresponding author: kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dys- Tae-Sung Ko, MD kinesia), hemiplegic migraine, and episodic ataxia, are important examples of conditions where Department of Pediatrics, Asan movement disorders and seizures overlap. Recently, many articles describing genes associated Medical Center Children’s Hospital, University of Ulsan College of with paroxysmal movement disorders and epilepsy have been published, providing much infor- Medicine, 88 Olympic-ro 43-gil, mation about their molecular pathology. In this review, we summarize the main genetic disorders Songpa-gu, Seoul 05505, Korea that results in co-occurrence of epilepsy and paroxysmal movement disorders, with a presenta- Tel: +82-2-3010-3390 tion of their genetic characteristics, suspected pathogenic mechanisms, and detailed descriptions Fax: +82-2-473-3725 of paroxysmal movement disorders and seizure types. E-mail: [email protected] Keywords: Dyskinesias; Movement disorders; Seizures; Epilepsy Introduction ies, and paroxysmal dyskinesias [3,4]. Paroxysmal dyskinesias are an important disease paradigm asso- Movement disorders often arise from the basal ganglia nuclei or ciated with overlapping movement disorders and seizures [5].
    [Show full text]
  • History-Of-Movement-Disorders.Pdf
    Comp. by: NJayamalathiProof0000876237 Date:20/11/08 Time:10:08:14 Stage:First Proof File Path://spiina1001z/Womat/Production/PRODENV/0000000001/0000011393/0000000016/ 0000876237.3D Proof by: QC by: ProjectAcronym:BS:FINGER Volume:02133 Handbook of Clinical Neurology, Vol. 95 (3rd series) History of Neurology S. Finger, F. Boller, K.L. Tyler, Editors # 2009 Elsevier B.V. All rights reserved Chapter 33 The history of movement disorders DOUGLAS J. LANSKA* Veterans Affairs Medical Center, Tomah, WI, USA, and University of Wisconsin School of Medicine and Public Health, Madison, WI, USA THE BASAL GANGLIA AND DISORDERS Eduard Hitzig (1838–1907) on the cerebral cortex of dogs OF MOVEMENT (Fritsch and Hitzig, 1870/1960), British physiologist Distinction between cortex, white matter, David Ferrier’s (1843–1928) stimulation and ablation and subcortical nuclei experiments on rabbits, cats, dogs and primates begun in 1873 (Ferrier, 1876), and Jackson’s careful clinical The distinction between cortex, white matter, and sub- and clinical-pathologic studies in people (late 1860s cortical nuclei was appreciated by Andreas Vesalius and early 1870s) that the role of the motor cortex was (1514–1564) and Francisco Piccolomini (1520–1604) in appreciated, so that by 1876 Jackson could consider the the 16th century (Vesalius, 1542; Piccolomini, 1630; “motor centers in Hitzig and Ferrier’s region ...higher Goetz et al., 2001a), and a century later British physician in degree of evolution that the corpus striatum” Thomas Willis (1621–1675) implicated the corpus
    [Show full text]