DOCSLIB.ORG

Differential Diagnosis of Common Tremor Syndromes R Bhidayasiri

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Differential Diagnosis of Common Tremor Syndromes R Bhidayasiri 756 Postgrad Med J: first published as 10.1136/pgmj.2005.032979 on 12 December 2005. Downloaded from REVIEW Differential diagnosis of common tremor syndromes R Bhidayasiri ............................................................................................................................... Postgrad Med J 2005;81:756–762. doi: 10.1136/pgmj.2005.032979 Tremor is one of the most common involuntary movement topographical distribution. Different classifica- tions of tremor have been proposed although the disorders seen in clinical practice. In addition to the most useful and widely accepted classification detailed history, the differential diagnosis is mainly clinical divides tremor according to the behaviour it based on the distinction at rest, postural and intention, occurs, that is rest and action tremor, which is further subdivided into postural and kinetic activation condition, frequency, and topographical tremor (table 1).1–3 Action tremor, the most distribution. The causes of tremor are heterogeneous and it prevalent of these types of tremor, occurs during can present alone (for example, essential tremor) or as a sustained extension of the arm and during voluntary movements, such as writing or typing. part of a neurological syndrome (for example, multiple Resting tremor is suspected, if it occurs with the sclerosis). Essential tremor and the tremor of Parkinson’s patient sitting with his arms firmly supported disease are the most common tremors encountered in without any voluntary activities, if it increases with mental stress (counting backwards), and if clinical practice. This article focuses on a practical it is suppressed by voluntary movements. The approach to these different forms of tremor and how to most common cause of resting tremor is idio- distinguish them clinically. Evidence supporting various pathic Parkinson’s disease (PD). The most common cause of postural and kinetic tremor is strategies used in the differentiation is then presented, essential tremor (ET). Physiological tremor is an followed by a review of formal guidelines or action tremor and is present in every healthy recommendations when they exist. person under certain conditions. Tremor can present alone or as part of a neurological ........................................................................... syndrome, for example multiple sclerosis, dysto- nia, and neuropathy. This article discusses remor is one of the most common involun- different types of tremor with an emphasis on tary movement disorders seen in clinical salient features and how to distinguish them Tpractice. It is defined as an involuntary, clinically. Evidence supporting various available approximately rhythmic, and roughly sinusoidal strategies is then presented, followed by a review movement of one or more body parts. It is of established guidelines. differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, http://pmj.bmj.com/ and myoclonus, by its repetitive, stereotyped ESSENTIAL TREMOR: THE MOST movements of a regular amplitude and fre- COMMON FORM OF ACTION TREMOR quency. Tremor may be confused with rhythmic Action tremor refers to any tremor that is myoclonus (incorrectly termed cortical tremor), produced by voluntary contraction of muscles, which is typically characterised by brief muscle including postural, isometric, and kinetic tremor. twitches, confined to one limb or to adjacent The last includes intention tremor. As there are body regions, associated with spike-wave com- no validated serological, radiological, and patho- logical markers in ET, the diagnosis is primarily on September 26, 2021 by guest. Protected copyright. plexes on the electroencephalogram (EEG) or 2 spinal lesions. Clonus, unlike tremor, represents based on clinical findings (box 1). Therefore, the a rhythmic movement, which is increased by examination should be comprehensive. Firstly, muscle stretching. Asterixis can be distinguished observe the patient sitting at rest to note whether from tremor on the basis of electromyographic there is evidence of a resting tremor of the head, (EMG) findings of prolonged absence of EMG hands, or legs. Then, ask the patient to stretch activity during ‘‘flapping’’ or abduction of the out the arms and hands completely and look for upper extremities. Stereotypies may have rhyth- a postural tremor, followed by checking finger- mic components, but nevertheless are domi- nose-finger movements looking for a kinetic ....................... nanted by complex movements. Lastly, epilepsia tremor. Typically, essential tremor is an action partialis continua (EPC) can produce regular tremor, either postural or kinetic in character, Correspondence to: mainly affecting the hands. It is usually bilateral Dr R Bhidayasiri, jerks of the arm or hand, which can be difficult Department of Neurology, with a frequency of 4 Hz to 12 Hz and largely to distinguish from tremor. EPC is associated 4 Reed Neurological with EEG changes (which may need to be symmetrical. The upper limbs are affected in Research Institute, UCLA about 95% of patients, followed by head (34%), Medical Center, 710 identified with back-averaging techniques), and Westwood Plaza, Los MRI changes in contralateral sensorimotor cor- Angeles, CA 90095, USA; tex. Abbreviations: EMG, electromyography; EEG, [email protected] The first step in evaluating any patient with electroencephalography; EPC, epilepsia partialis continua; PD, Parkinson’s disease; ET, essential tremor; Submitted24January2005 tremor is to characterise the tremor. Various PET, positron emission tomography; DAT, dopamine Accepted 16 April 2005 types of tremor can be distinguished clinically, transporter; DBS, deep brain stimulation; VIM, ventral ....................... based on the activation condition, frequency, and intermedius nucleus www.postgradmedj.com Common tremor syndromes 757 Postgrad Med J: first published as 10.1136/pgmj.2005.032979 on 12 December 2005. Downloaded from Table 1 Classification of tremor Box 1 Clinical criteria for essential tremor2 Type of tremor Definition Definite essential tremor Rest tremor Tremor that occurs in a body part that is not voluntarily activated and is N Postural tremor of moderate amplitude is present in at completed supported against gravity. least one arm Action tremor Any tremor that is produced by voluntary contraction of muscle, N Tremor of moderate amplitude is present in at least one including postural, isometric, and arm during at least four tasks, such as pouring water, kinetic tremor. The last includes using a spoon to drink water drinking water, finger-to- intention tremor. Postural tremor Tremor that is present while nose manoeuvre, and drawing a spiral. voluntarily maintaining a position N Tremor must interfere with at least one activity of daily against gravity. living. Kinetic tremor Tremor that occurs during any voluntary movement. It may include N Medications, hypothyroidism, alcohol, and other visually or non-visually guided neurological conditions are not the cause of tremor. movements. Tremor during target directed movement is called intention Probable essential tremor tremor. Isometric tremor Tremor that occurs as a result of N Tremor of moderate amplitude is present in at least one muscle contraction against a rigid arm during at least four tasks, or head tremor is stationary object. present. Task specific tremor Kinetic tremor that may appear or become exacerbated during specific N Medications, hyperthyroidism, alcohol, and other activities. neurological conditions are not the cause of tremor. except the tremor although signs of mild cerebellar dysfunc- 2 lower limbs (20%), voice (12%), face and trunk (5%). With tion can be seen, supported by a recent study using positron the passage of time, the frequency of the tremor decreases emission tomography (PET) showing increased cerebellar 5 and the amplitude may increase. The prevalence ranges from activation.19 When the presentation is atypical, functional 0.4% to 6.7% in persons over 40 years old so it is the most brain imaging with positron emission tomography and the 6–8 common type of tremor. Many studies have shown that ET radiotracer 18-fluorodopa (FDOPA-PET) may permit the is much more prevalent than tremor of PD (up to 20 times diagnosis of PD in early stage, recording and quantifying 910 difference). However, some experts suspected that the the deficiency of dopamine synthesis and storage within pre- 11 condition might be overdiagnosed. Although the condition synaptic striatal nerve terminals. In addition, dopamine is both clinically and genetically heterogeneous, half of the transporter (DAT) single photon emission computed tomo- cases are considered familial with an autosomal dominant graphy (SPECT), such as 123I-ß-FP-CIT, can effectively 9 12–14 pattern of inheritance. Two different chromosomal distinguish between ET and PD in an early stage of the regions have been linked to familial ET, one on chromosome disease with the results being within normal limits in ET.20 21 15 16 3q13 and another on chromosome 2p22–25. However, no Apart from excluding the possibility of early PD, a careful specific gene mutations have been identified to date. The drug history is mandatory as many drugs are capable of penetrance is thought to be high, suggesting that 89% of producing postural and kinetic tremors (box 2). These drugs http://pmj.bmj.com/ 617 patients at risk have signs of ET by the age of 65. The age include b-adrenergic agonists, valproic acid, thyroxin, tricyc- of onset is typically 60–70
Load more

Recommended publications
  • Detrusor Sphincter Dyssynergia: a Review of Physiology, Diagnosis, and Treatment Strategies
    Review Article Detrusor sphincter dyssynergia: a review of physiology, diagnosis, and treatment strategies John T. Stoffel Department of Urology, University of Michigan, Ann Arbor, MI, USA Correspondence to: John T. Stoffel, MD. Department of Urology, University of Michigan, Ann Arbor, MI, USA. Email: [email protected]. Abstract: Detrusor sphincter dyssynergia (DSD) is the urodynamic description of bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. DSD is associated with neurologic conditions such as spinal cord injury, multiple sclerosis, and spina bifida and some of these neurogenic bladder patients with DSD may be at risk for autonomic dysreflexia, recurrent urinary tract infections, or upper tract compromise if the condition is not followed and treated appropriately. It is diagnosed most commonly during the voiding phase of urodynamic studies using EMG recordings and voiding cystourethrograms, although urethral pressure monitoring could also potentially be used. DSD can be sub-classified as either continuous or intermittent, although adoption of this terminology is not widespread. There are few validated oral pharmacologic treatment options for this condition but transurethral botulinum toxin injection have shown temporary efficacy in reducing bladder outlet obstruction. Urinary sphincterotomy has also demonstrated reproducible long term benefits in several studies, but the morbidity associated with this procedure can be high. Keywords: Detrusor sphincter dyssynergia (DSD); neurogenic bladder; urodynamics; external urinary sphincter (EUS) Submitted Nov 30, 2015. Accepted for publication Jan 05, 2016. doi: 10.3978/j.issn.2223-4683.2016.01.08 View this article at: http://dx.doi.org/10.3978/j.issn.2223-4683.2016.01.08 Introduction Physiology The human bladder has two functions—to store and During storage of urine, afferent nerves carry information empty urine.
    [Show full text]
  • Acute Cerebellar Ataxia Associated with Intermittent ECG Pattern Similar to Wellens Syndrome and Transient Prominent QRS Anterior Forces
    Acute cerebellar ataxia associated with intermittent ECG pattern similar to Wellens syndrome and transient prominent QRS anterior forces Andrés Ricardo Pérez-Riera, MD, PhD. Post-Graduates Advisor at Design of Studies and Scientific Writing Laboratory in the ABC Faculty of Medicine - ABC Foundation - Santo André – São Paulo – Brazil Raimundo Barbosa-Barros, MD. Specialist in Cardiology by the Brazilian Society of Cardiology (SBC) Specialist in Intensive Care by the Sociedade Brasileira de Terapia Intensiva Chief of the Coronary Center of the Hospital de Messejana Dr. Carlos Alberto Studart Gomes. Fortaleza - Brazil Adrian Baranchuk, MD FACC FRCPC Associate Professor of Medicine and Physiology - Cardiac Electrophysiology and Pacing - Director, EP Training Program - Kingston General Hospital - FAPC 3, 76 Stuart Street K7L 2V7, Kingston ON Queen's University - Canada Male patient, 56 years old, white, uncontrolled hypertension, was admitted to our emergency department (ED) with reports of sudden dizziness, headache of abrupt onset, nausea, vomiting and weakness in the lower limbs. Physical examination drew attention to the presence of manifestations suggestive of cerebellar syndrome: impaired coordination in the trunk or arms and legs, inability to coordinate balance, gait, extremity, uncontrolled or repetitive eye movements, (nystagmus), dyssynergia, dysmetria, dysdiadochokinesia, dysarthria (cerebellar ataxia). Normal myocardial necrosis markers and normal electrolytes ECO 1: anteroseptal-apical akinesis; LVEF = 30% ECO 2 (third day):
    [Show full text]
  • Tardive Dyskinesia
    Tardive Dyskinesia Tardive Dyskinesia Checklist The checklist below can be used to help determine if you or someone you know may have signs associated with tardive dyskinesia and other movement disorders. Movement Description Observed? Rhythmic shaking of hands, jaw, head, or feet Yes Tremor A very rhythmic shaking at 3-6 beats per second usually indicates extrapyramidal symptoms or side effects (EPSE) of parkinsonism, even No if only visible in the tongue, jaw, hands, or legs. Sustained abnormal posture of neck or trunk Yes Dystonia Involuntary extension of the back or rotation of the neck over weeks or months is common in tardive dystonia. No Restless pacing, leg bouncing, or posture shifting Yes Akathisia Repetitive movements accompanied by a strong feeling of restlessness may indicate a medication side effect of akathisia. No Repeated stereotyped movements of the tongue, jaw, or lips Yes Examples include chewing movements, tongue darting, or lip pursing. TD is not rhythmic (i.e., not tremor). These mouth and tongue movements No are the most frequent signs of tardive dyskinesia. Tardive Writhing, twisting, dancing movements Yes Dyskinesia of fingers or toes Repetitive finger and toe movements are common in individuals with No tardive dyskinesia (and may appear to be similar to akathisia). Rocking, jerking, flexing, or thrusting of trunk or hips Yes Stereotyped movements of the trunk, hips, or pelvis may reflect tardive dyskinesia. No There are many kinds of abnormal movements in individuals receiving psychiatric medications and not all are because of drugs. If you answered “yes” to one or more of the items above, an evaluation by a psychiatrist or neurologist skilled in movement disorders may be warranted to determine the type of disorder and best treatment options.
    [Show full text]
  • Neurogenic Bowel Dysfunction in Patients with Multiple Sclerosis Open Access to Scientific and Medical Research DOI
    Journal name: Degenerative Neurological and Neuromuscular Disease Article Designation: Review Year: 2018 Volume: 8 Degenerative Neurological and Neuromuscular Disease Dovepress Running head verso: Preziosi et al Running head recto: Neurogenic bowel dysfunction in patients with multiple sclerosis open access to scientific and medical research DOI: http://dx.doi.org/10.2147/DNND.S138835 Open Access Full Text Article REVIEW Neurogenic bowel dysfunction in patients with multiple sclerosis: prevalence, impact, and management strategies Giuseppe Preziosi Abstract: Bowel dysfunction in patients with multiple sclerosis (MS) is highly prevalent. Ayeshah Gordon-Dixon Constipation and fecal incontinence can coexist and alternate, impacting on the patient’s quality Anton Emmanuel of life and social interactions, as well as burdening the caregivers. The cost for the health care providers is also significant, with increased number of hospital admissions, treatment-related Gastro-Intestinal Physiology Unit, University College London Hospital, costs, and hospital appointments. The origin is multifactorial, and includes alteration of neu- London, UK rological pathways, polypharmacy, behavioral elements, and ability to access the toilet. Every patient with MS should be sensitively questioned about bowel function, and red flag symptoms should prompt adequate investigations. Manipulation of life style factors and establishment of a bowel regime should be attempted in the first place, and if this fails, other measures such For personal use only. as biofeedback and transanal irrigation should be included. A stoma can improve quality of life, and is not necessarily a last-ditch option. Antegrade colonic enemas can also be an effec- tive option, whilst neuromodulation has not proved its role yet. Effective treatment of bowel dysfunction improves quality of life, reduces incidence of urinary tract infection, and reduces health care costs.
    [Show full text]
  • Rest Tremor Revisited: Parkinson's Disease and Other Disorders
    Chen et al. Translational Neurodegeneration (2017) 6:16 DOI 10.1186/s40035-017-0086-4 REVIEW Open Access Rest tremor revisited: Parkinson’s disease and other disorders Wei Chen1,2, Franziska Hopfner2, Jos Steffen Becktepe2 and Günther Deuschl1,2* Abstract Tremor is the most common movement disorder characterized by a rhythmical, involuntary oscillatory movement of a body part. Since distinct diseases can cause similar tremor manifestations and vice-versa,itischallengingtomakean accurate diagnosis. This applies particularly for tremor at rest. This entity was only rarely studied in the past, although a multitude of clinical studies on prevalence and clinical features of tremor in Parkinson’s disease (PD), essential tremor and dystonia, have been carried out. Monosymptomatic rest tremor has been further separated from tremor-dominated PD. Rest tremor is also found in dystonic tremor, essential tremor with a rest component, Holmes tremor and a few even rarer conditions. Dopamine transporter imaging and several electrophysiological methods provide additional clues for tremor differential diagnosis. New evidence from neuroimaging and electrophysiological studies has broadened our knowledge on the pathophysiology of Parkinsonian and non-Parkinsonian tremor. Large cohort studies are warranted in future to explore the nature course and biological basis of tremor in common tremor related disorders. Keywords: Tremor, Parkinson’s disease, Essential tremor, Dystonia, Pathophysiology Background and clinical correlates of tremor in common tremor re- Tremor is defined as a rhythmical, involuntary oscillatory lated disorders. Some practical clinical cues and ancillary movement of a body part [1]. Making an accurate diagnosis tests for clinical distinction are found [3]. Besides, accu- of tremor disorders is challenging, since similar clinical mulating structural and functional neuroimaging, as well entities may be caused by different diseases.
    [Show full text]
  • Spinocerebellar Ataxia Type 29 Due to Mutations in ITPR1: a Case Series and Review of This Emerging Congenital Ataxia Jessica L
    Zambonin et al. Orphanet Journal of Rare Diseases (2017) 12:121 DOI 10.1186/s13023-017-0672-7 RESEARCH Open Access Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Jessica L. Zambonin1*, Allison Bellomo2, Hilla Ben-Pazi3, David B. Everman2, Lee M. Frazer2, Michael T. Geraghty4, Amy D. Harper5, Julie R. Jones2, Benjamin Kamien6, Kristin Kernohan1,4, Mary Kay Koenig7, Matthew Lines4, Elizabeth Emma Palmer8,9, Randal Richardson10, Reeval Segel11, Mark Tarnopolsky12, Jason R. Vanstone4, Melissa Gibbons13, Abigail Collins14, Brent L. Fogel15, Care4Rare Canada Consortium, Tracy Dudding-Byth16 and Kym M. Boycott1,4 Abstract Background: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible. Results: Clinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family. We describe the genetic, clinical and neuroimaging features of these patients to further characterize the clinical features of this rare condition and assess for any genotype-phenotype correlation for this disorder. Our cohort consisted of 9 males and 12 females, with ages ranging from 28 months to 49 years. Disease course was non-progressive with infantile-onset hypotonia and delays in motor and speech development. Gait ataxia was present in all individuals and 10 (48%) were not ambulating independently between the ages of 3–12 years of age.
    [Show full text]
  • Diagnostic Clues in Multiple System Atrophy
    DO I:10.4274/Tnd.82905 Case Report / Olgu Sunumu Diagnostic Clues in Multiple System Atrophy: A Case Report and Literature Review Multisistem Atrofi Tanısında İpuçları: Bir Olgu Sunumu ve Literatürün Gözden Geçirilmesi Mehmet Yücel, Oğuzhan Öz, Hakan Akgün, Semai Bek, Tayfun Kaşıkçı, İlter Uysal, Yaşar Kütükçü, Zeki Odabaşı Gülhane Military Medical Academy, Ankara, Turkey Sum mary Multiple system atrophy (MSA) is an adult-onset, sporadic, progressive neurodegenerative disease. Based on the consensus criteria, patients with MSA are clinically classified into cerebellar (MSA-C) and parkinsonian (MSA-P) subtypes. In addition to major diagnostic criteria including poor response to levodopa, and presence of pyramidal or cerebellar signs (ataxia) or autonomic failure, certain clinical features or ‘‘red flags’’ may raise the clinical suspicion for MSA. In our case report we present a 67-year-old female patient admitted to our hospital due to inability to walk, with poor response to levodopa therapy, whose neurological examination revealed severe Parkinsonism, ataxia and who fulfilled all criteria for MSA, as rarely seen in clinical practice.(Turkish Journal of Neurology 2013; 19:28-30) Key Words: Multiple system atrophy, autonomic failure, diagnostic criteria Özet Multisistem atrofi (MSA) erişkin dönemde başlayan, ilerleyici, nedeni bilinmeyen sporadik nörodejeneratif bir hastalıktır. MSA kabul görmüş tanı kriterlerine göre klinik olarak serebellar (MSA-C) ve parkinsoniyen (MSA-P) alt tiplerine ayrılmaktadır. Düşük levadopa yanıtı, piramidal, serebellar bulguların (ataksi) ya da otonomik bozukluk olması gibi majör tanı kriterlerininin yanında “red flags” olarak isimlendirilen belirgin klinik bulgular ya da uyarı işaretlerinin olması MSA tanısı için klinik şüpheyi oluşturmalıdır. Olgu sunumunda 67 yaşında yürüyememe şikayeti ile polikliniğimize müracaat eden ve levadopa tedavisine düşük yanıt gösteren ciddi parkinsonizm bulguları ile ataksi bulunan kadın hasta MSA tanı kriterlerini tam olarak karşıladığı ve klinik pratikte nadir görüldüğü için sunduk.
    [Show full text]
  • THE MANAGEMENT of TREMOR Peter G Bain
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.72.suppl_1.i3 on 1 March 2002. Downloaded from THE MANAGEMENT OF TREMOR Peter G Bain *i3 J Neurol Neurosurg Psychiatry 2002;72(Suppl I):i3–i9 remor is defined as a rhythmical, involuntary oscillatory movement of a body part.1 The Tformulation of a clinical diagnosis for an individual’s tremor involves two discrete steps2: c The observed tremor is classified on phenomenological grounds c An attempt is made to find the cause of the tremor by looking for aetiological clues in the patient’s history and physical examination and also, in some cases, by investigation. c PHENOMENOLOGICAL CLASSIFICATION OF TREMOR The phenomenological classification of tremor is determined by finding out: c which parts of the patient’s body are affected by tremor? c what types (or components) of tremor, classified by state of activity, are present at those anatomical sites? The following definitions are used to describe the various tremor components evident on exam- ination1: c Rest tremor is a tremor present in a body part that is not voluntarily activated and is completely supported against gravity (ideally resting on a couch) copyright. c Action tremor is any tremor that is produced by voluntary contraction of a muscle. It includes pos- tural, kinetic, intention, task specific, and isometric tremor: – Postural tremor is present while voluntarily maintaining a position against gravity – Kinetic tremor is tremor occurring during any voluntary movement. Simple kinetic tremor occurs during voluntary movements that are not target directed – Intention tremor or tremor during target directed movement is present when tremor amplitude increases during visually guided movements towards a target at the termination of that movement, when the possibility of position specific tremor or postural tremor produced at the beginning and end of a movement has been excluded – Task specific kinetic tremor—kinetic tremor may appear or become exacerbated during specific activities.
    [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]
  • TWITCH, JERK Or SPASM Movement Disorders Seen in Family Practice
    TWITCH, JERK or SPASM Movement Disorders Seen in Family Practice J. Antonelle de Marcaida, M.D. Medical Director Chase Family Movement Disorders Center Hartford HealthCare Ayer Neuroscience Institute DEFINITION OF TERMS • Movement Disorders – neurological syndromes in which there is either an excess of movement or a paucity of voluntary and automatic movements, unrelated to weakness or spasticity • Hyperkinesias – excess of movements • Dyskinesias – unnatural movements • Abnormal Involuntary Movements – non-suppressible or only partially suppressible • Hypokinesia – decreased amplitude of movement • Bradykinesia – slowness of movement • Akinesia – loss of movement CLASSES OF MOVEMENTS • Automatic movements – learned motor behaviors performed without conscious effort, e.g. walking, speaking, swinging of arms while walking • Voluntary movements – intentional (planned or self-initiated) or externally triggered (in response to external stimulus, e.g. turn head toward loud noise, withdraw hand from hot stove) • Semi-voluntary/“unvoluntary” – induced by inner sensory stimulus (e.g. need to stretch body part or scratch an itch) or by an unwanted feeling or compulsion (e.g. compulsive touching, restless legs syndrome) • Involuntary movements – often non-suppressible (hemifacial spasms, myoclonus) or only partially suppressible (tremors, chorea, tics) HYPERKINESIAS: major categories • CHOREA • DYSTONIA • MYOCLONUS • TICS • TREMORS HYPERKINESIAS: subtypes Abdominal dyskinesias Jumpy stumps Akathisic movements Moving toes/fingers Asynergia/ataxia
    [Show full text]
  • Cognitive Impairments in Patients with Congenital Nonprogressive Cerebellar Ataxia
    1/26/2011 Cognitive impairments in patients with… Articles Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia Maja Steinlin, MD, Marianne Styger, LicPhil and Eugen Boltshauser, MD + Author Affiliations Address correspondence and reprint requests to Dr. Maja Steinlin, Division of Neurology, University Children’s Hospital, Inselspital, 3010 Bern, Switzerland; e-mail: [email protected] Abstract Objective: To report neuropsychologic functions and developmental problems of patients with congenital nonprogressive cerebellar ataxia. Background: Growing interest in cerebellar function has prompted closer attention to cognitive impairments in patients with cerebellar damage. Methods: The authors studied 11 patients with nonprogressive congenital ataxia (NPCA) with Wechsler’s intelligence testing, with additional tests of attention, memory, language, visual perception, and frontal functions. Results: Seven of the 11 patients had an IQ of 60 to 92, with marked nonverbal deficits and subnormal to normal verbal performance (group A). Four patients had an IQ of 30 to 49 without pronounced profile asymmetry (group B). Four of the 7 group A patients had decreased alertness and sustained attention, but all had normal selective attention. Tests of frontal functions and memory yielded higher verbal scores than nonverbal scores. There was no deficit on the Aachener Naming Test (similar to the Boston Naming Test), because there were marked difficulties in the majority with visuoconstructive tasks and visual perception. Group B was significantly abnormal in almost all subtests, having a less prominent but similar profile. Conclusion: Patients with NPCA have significant cognitive deficits with an asymmetric profile and better verbal than nonverbal performance. Effects on nonverbal performance of longstanding deficits in visuospatial input during learning, the influence of impaired procedural learning, and asymmetric plasticity of the cerebral hemispheres may contribute to this uneven neuropsychological profile.
    [Show full text]
  • 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.
    [Show full text]