Hysterical Spinal Paralysis
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A Syndrome-Based Clinical Approach for Clerkship Students General Comments 1. This Is Not an All-Inclusive “Cookbook” for Ev
A Syndrome-Based Clinical Approach for Clerkship Students General Comments 1. This is not an all-inclusive “cookbook” for every Neurology patient, but a set of guidelines to help you rationally approach patients with certain syndromes (sets of signs and symptoms which suggest a lesion in particular parts of the nervous system). 2. As you obtain a history and perform a neurological physical exam, try initially to localize all the patient’s signs and symptoms to one, single lesion in the nervous system. It may be surprising that a variety of signs and symptoms, at first glance apparently unrelated, on second thought can localize accurately to a single lesion. If this approach fails, then consider multiple, separate lesions for the patient’s signs and symptoms. 3. The tempo or rate at which signs and symptoms develop or occur often suggests the underlying pathological process. a. sudden onset---favors stroke (ischemia or hemorrhage), seizure, migraine (or other headache syndromes), and trauma b. subacute onset---favors inflammatory, infectious or immune-mediated disorders c. chronic onset---favors degenerative disorders, tumors Toximetabolic disorders, potentially treatable and reversible, may mimic lesions in the nervous system, and can evolve at variable tempos. Hereditary conditions may be congenital (present at birth) and nonprogressive or static, or develop later in life, with variable rates of progression. Family members affected by the same genetic disorder may be remarkably similar with regards to onset and clinical severity, while some genetic disorders vary widely regarding when and how severely family members are affected. 4. In the central nervous system, “positive symptoms or phenomena,” such as flashes of light, or a tingling sensation, suggest “excitation” or increased activity in the nervous system: migraine or seizure. -
Child Neurology: Hereditary Spastic Paraplegia in Children S.T
RESIDENT & FELLOW SECTION Child Neurology: Section Editor Hereditary spastic paraplegia in children Mitchell S.V. Elkind, MD, MS S.T. de Bot, MD Because the medical literature on hereditary spastic clinical feature is progressive lower limb spasticity B.P.C. van de paraplegia (HSP) is dominated by descriptions of secondary to pyramidal tract dysfunction. HSP is Warrenburg, MD, adult case series, there is less emphasis on the genetic classified as pure if neurologic signs are limited to the PhD evaluation in suspected pediatric cases of HSP. The lower limbs (although urinary urgency and mild im- H.P.H. Kremer, differential diagnosis of progressive spastic paraplegia pairment of vibration perception in the distal lower MD, PhD strongly depends on the age at onset, as well as the ac- extremities may occur). In contrast, complicated M.A.A.P. Willemsen, companying clinical features, possible abnormalities on forms of HSP display additional neurologic and MRI abnormalities such as ataxia, more significant periph- MD, PhD MRI, and family history. In order to develop a rational eral neuropathy, mental retardation, or a thin corpus diagnostic strategy for pediatric HSP cases, we per- callosum. HSP may be inherited as an autosomal formed a literature search focusing on presenting signs Address correspondence and dominant, autosomal recessive, or X-linked disease. reprint requests to Dr. S.T. de and symptoms, age at onset, and genotype. We present Over 40 loci and nearly 20 genes have already been Bot, Radboud University a case of a young boy with a REEP1 (SPG31) mutation. Nijmegen Medical Centre, identified.1 Autosomal dominant transmission is ob- Department of Neurology, PO served in 70% to 80% of all cases and typically re- Box 9101, 6500 HB, Nijmegen, CASE REPORT A 4-year-old boy presented with 2 the Netherlands progressive walking difficulties from the time he sults in pure HSP. -
Study Guide Medical Terminology by Thea Liza Batan About the Author
Study Guide Medical Terminology By Thea Liza Batan About the Author Thea Liza Batan earned a Master of Science in Nursing Administration in 2007 from Xavier University in Cincinnati, Ohio. She has worked as a staff nurse, nurse instructor, and level department head. She currently works as a simulation coordinator and a free- lance writer specializing in nursing and healthcare. All terms mentioned in this text that are known to be trademarks or service marks have been appropriately capitalized. Use of a term in this text shouldn’t be regarded as affecting the validity of any trademark or service mark. Copyright © 2017 by Penn Foster, Inc. All rights reserved. No part of the material protected by this copyright may be reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, or by any information storage and retrieval system, without permission in writing from the copyright owner. Requests for permission to make copies of any part of the work should be mailed to Copyright Permissions, Penn Foster, 925 Oak Street, Scranton, Pennsylvania 18515. Printed in the United States of America CONTENTS INSTRUCTIONS 1 READING ASSIGNMENTS 3 LESSON 1: THE FUNDAMENTALS OF MEDICAL TERMINOLOGY 5 LESSON 2: DIAGNOSIS, INTERVENTION, AND HUMAN BODY TERMS 28 LESSON 3: MUSCULOSKELETAL, CIRCULATORY, AND RESPIRATORY SYSTEM TERMS 44 LESSON 4: DIGESTIVE, URINARY, AND REPRODUCTIVE SYSTEM TERMS 69 LESSON 5: INTEGUMENTARY, NERVOUS, AND ENDOCRINE S YSTEM TERMS 96 SELF-CHECK ANSWERS 134 © PENN FOSTER, INC. 2017 MEDICAL TERMINOLOGY PAGE III Contents INSTRUCTIONS INTRODUCTION Welcome to your course on medical terminology. You’re taking this course because you’re most likely interested in pursuing a health and science career, which entails proficiencyincommunicatingwithhealthcareprofessionalssuchasphysicians,nurses, or dentists. -
Hereditary Spastic Paraplegia
8 Hereditary Spastic Paraplegia Notes and questions Hereditary Spastic Paraplegia What is Hereditary Spastic Paraplegia? Hereditary Spastic Paraplegia (HSP) is a medical term for a condition that affects muscle function. The terms spastic and paraplegia comes from several words in Greek: • ‘spastic’ means afflicted with spasms (an alteration in muscle tone that results in affected movements) • ‘paraplegia’ meaning an impairment in motor or sensory function of the lower extremities (from the hips down) What are the signs and symptoms of HSP? Muscular spasticity • Individuals with HSP commonly will have lower extremity weakness, spasticity, and muscle stiffness. • This can cause difficulty with walking or a “scissoring” gait. We are grateful to an anonymous donor for making a kind and Other common signs or symptoms include: generous donation to the Neuromuscular and Neurometabolic Centre. • urinary urgency • overactive or over responsive “brisk” reflexes © Hamilton Health Sciences, 2019 PD 9983 – 01/2019 Dpc/pted/HereditarySpasticParaplegia-trh.docx dt/January 15, 2019 ____________________________________________________________________________ 2 7 Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia HSP is usually a chronic or life-long disease that affects If you have any questions about DM1, please speak with your people in different ways. doctor, genetic counsellor, or nurse at the Neuromuscular and Neurometabolic Centre. HSP can be classified as either “Uncomplicated HSP” or “Complicated HSP”. Notes and questions Types of Hereditary Spastic Paraplegia 1. Uncomplicated HSP: • Individuals often experience difficulty walking as the first symptom. • Onset of symptoms can begin at any age, from early childhood through late adulthood. • Symptoms may be non-progressive, or they may worsen slowly over many years. -
Functional Neurologic Disorders and Related Disorders Victor W Mark MD ( Dr
Functional neurologic disorders and related disorders Victor W Mark MD ( Dr. Mark of the University of Alabama at Birmingham has no relevant financial relationships to disclose. ) Originally released April 18, 2001; last updated December 13, 2018; expires December 13, 2021 Introduction This article includes discussion of psychogenic neurologic disorders, functional neurologic disorder, functional movement disorder, conversion disorder, and hysteria. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations. Overview Several behavioral disorders are related by (1) their resemblance to other, more familiar neurologic disorders; (2) lack of well-established biomarkers (eg, structural lesions on brain imaging studies, seizure waveforms on EEGs); and (3) aggravation of symptoms with the patient s attention to the disorder. However, the features and causes for these disorders are very different among themselves. This topic reviews functional neurologic disorder, Munchausen syndrome, Munchausen syndrome by proxy, and Ganser syndrome. Key points • Functional neurologic disorders are commonly encountered in general neurologic practices and, hence, knowing their manifestations and treatment is crucial for clinical care. • The disturbance is involuntary, yet at the same time it can be controlled by the patient intermittently. • Despite being self-controllable, the disturbance is generally disabling unless expert professional care is provided. • There is no consistent association between functional neurologic disorder and either posttraumatic emotional stress or sexual abuse. • Functional neurologic disturbances disorder responds best to empathetic concern by the clinician; demonstration that the disorder lacks a structural or permanent etiology; explanation that it can be improved with distraction; and guided attempts to reduce triggers of onset. Cognitive behavioral therapy, combined with physical therapy when warranted, is emerging as a successful intervention. -
KIF1A Missense Mutations in SPG30, an Autosomal Recessive Spastic Paraplegia: Distinct Phenotypes According to the Nature of the Mutations
European Journal of Human Genetics (2012) 20, 645–649 & 2012 Macmillan Publishers Limited All rights reserved 1018-4813/12 www.nature.com/ejhg ARTICLE KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations Stephan Klebe1,2,3,4,5,6, Alexander Lossos7, Hamid Azzedine1,3,4, Emeline Mundwiller1,3,4, Ruth Sheffer7, Marion Gaussen1,3,4, Cecilia Marelli2, Magdalena Nawara1,3,4, Wassila Carpentier8, Vincent Meyer9,10, Agne`s Rastetter1,3,4,11, Elodie Martin1,3,4,11, Delphine Bouteiller1,3,4, Laurent Orlando1,3,4,11, Gabor Gyapay9, Khalid H El-Hachimi1,3,4,11, Batel Zimmerman7, Moriya Gamliel7, Adel Misk12, Israela Lerer7, Alexis Brice*,1,2,3,4,6, Alexandra Durr1,2,3,4,6 and Giovanni Stevanin*,1,2,3,4,11 The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive spasticity in the lower limbs. The nosology of autosomal recessive forms is complex as most mapped loci have been identified in only one or a few families and account for only a small percentage of patients. We used next-generation sequencing focused on the SPG30 chromosomal region on chromosome 2q37.3 in two patients from the original linked family. In addition, wide genome scan and candidate gene analysis were performed in a second family of Palestinian origin. We identified a single homozygous mutation, p.R350G, that was found to cosegregate with the disease in the SPG30 kindred and was absent in 970 control chromosomes while affecting a strongly conserved amino acid at the end of the motor domain of KIF1A. -
Changes Caused by Stroke
Recovery Frontal lobe Parietal lobe let’s talk about controls personality, controls speech and reasoning, parts of sensation (touch and Changes speech, and muscles pressure) Caused by Stroke Your brain controls how you move, feel, communicate, think and act. Brain injury from a stroke may affect any of these abilities. Some changes are common no matter which side of the brain the injury is on. Others Temporal lobe are based on which side of the brain Occipital lobe controls hearing, the stroke injures. speech, and short- controls vision term memory What are the most common general What are common changes with a effects of stroke? right-brain injury? • Hemiparesis (weakness on one side of the body) or • Paralysis or weakness on the left side of the body. hemiplegia (paralysis on one side of the body) • One-sided neglect, which is a lack of awareness of the • Dysarthria (difficulty speaking or slurred speech), or left side of the body. It may also be a lack of awareness dysphagia (trouble swallowing) of what is going on to the survivor’s left. For example, • Fatigue they may only eat from the right side of their plate, ignoring the left side of the plate. • Loss of emotional control and changes in mood • Behavior may be more impulsive and less cautious • Cognitive changes (problems with memory, judgment, than before. problem-solving or a combination of these) • It may be harder for the survivor to understand facial • Behavior changes (personality changes, improper expressions and tone of voice. They also may have less language or actions) expression in their own face and tone of voice when • Decreased field of vision (inability to see peripheral communicating. -
ICD9 & ICD10 Neuromuscular Codes
ICD-9-CM and ICD-10-CM NEUROMUSCULAR DIAGNOSIS CODES ICD-9-CM ICD-10-CM Focal Neuropathy Mononeuropathy G56.00 Carpal tunnel syndrome, unspecified Carpal tunnel syndrome 354.00 G56.00 upper limb Other lesions of median nerve, Other median nerve lesion 354.10 G56.10 unspecified upper limb Lesion of ulnar nerve, unspecified Lesion of ulnar nerve 354.20 G56.20 upper limb Lesion of radial nerve, unspecified Lesion of radial nerve 354.30 G56.30 upper limb Lesion of sciatic nerve, unspecified Sciatic nerve lesion (Piriformis syndrome) 355.00 G57.00 lower limb Meralgia paresthetica, unspecified Meralgia paresthetica 355.10 G57.10 lower limb Lesion of lateral popiteal nerve, Peroneal nerve (lesion of lateral popiteal nerve) 355.30 G57.30 unspecified lower limb Tarsal tunnel syndrome, unspecified Tarsal tunnel syndrome 355.50 G57.50 lower limb Plexus Brachial plexus lesion 353.00 Brachial plexus disorders G54.0 Brachial neuralgia (or radiculitis NOS) 723.40 Radiculopathy, cervical region M54.12 Radiculopathy, cervicothoracic region M54.13 Thoracic outlet syndrome (Thoracic root Thoracic root disorders, not elsewhere 353.00 G54.3 lesions, not elsewhere classified) classified Lumbosacral plexus lesion 353.10 Lumbosacral plexus disorders G54.1 Neuralgic amyotrophy 353.50 Neuralgic amyotrophy G54.5 Root Cervical radiculopathy (Intervertebral disc Cervical disc disorder with myelopathy, 722.71 M50.00 disorder with myelopathy, cervical region) unspecified cervical region Lumbosacral root lesions (Degeneration of Other intervertebral disc degeneration, -
Hyperpigmentation
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.46.8.743 on 1 August 1983. Downloaded from Journal of Neurology, Neurosurgery, and Psychiatry 1983;46:743-744 Familial spinocerebellar ataxia with skin hyperpigmentation MICHAEL DARAS, ALAN J TUCHMAN, SHANTHA DAVID From the Department ofNeurology, New York Medical College, Lincoln Hospital, Bronx, New York, USA SUMMARY Previous reports have shown the association between familial spastic paraplegia and hypopigmentation of the skin. A family is reported in which three siblings presented with pro- gressive spastic paraparesis and cerebellar ataxia. All the siblings had large hyperpigmented naevi of the lower extremities while none of the unaffected members had a skin lesion. A definite association appears to exist between heredo-familial ataxias and disordered skin pigmentation, but the exact mechanism remains unclear. Many syndromes with disordered skin pigmentation pin and temperature senses were normal but position and and abnormalities of the nervous system have been vibration sense were decreased in both feet. Routine described. In two recent reports' 2 two families with laboratory investigations, including blood count and familial spastic paraplegia were described, in which chemistry, urinalysis, serum B-12 level, VDRL, EKG, and Protected by copyright. hypopigmentation of the skin was present in the chest, skull and complete spine radiographs were normal. affected members. We describe a family with,late Examination of the spinaflfluid was also normal. Computed onset progressive spastic paraplegia with cerebellar tomography of the head revealed bilateral cerebellar ataxia in which the three affected members have hemispheric atrophy. Motor nerve conduction velocities, hyperpigmented naevi in the lower sensory nerve latencies and electromyogram were normal. -
Hereditary Spastic Paraplegias
Hereditary Spastic Paraplegias Authors: Doctors Enza Maria Valente1 and Marco Seri2 Creation date: January 2003 Update: April 2004 Scientific Editor: Doctor Franco Taroni 1Neurogenetics Istituto CSS Mendel, Viale Regina Margherita 261, 00198 Roma, Italy. e.valente@css- mendel.it 2Dipartimento di Medicina Interna, Cardioangiologia ed Epatologia, Università degli studi di Bologna, Laboratorio di Genetica Medica, Policlinico S.Orsola-Malpighi, Via Massarenti 9, 40138 Bologna, Italy.mailto:[email protected] Abstract Keywords Disease name and synonyms Definition Classification Differential diagnosis Prevalence Clinical description Management including treatment Diagnostic methods Etiology Genetic counseling Antenatal diagnosis References Abstract Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Clinically, HSPs can be divided into two main groups: pure and complex forms. Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense, and, occasionally, of joint position sensation. Complex HSP forms are characterized by the presence of additional neurological or non-neurological features. Pure HSP is estimated to affect 9.6 individuals in 100.000. HSP may be inherited as an autosomal dominant, autosomal recessive or X-linked recessive trait, and multiple recessive and dominant forms exist. The majority of reported families (70-80%) displays autosomal dominant inheritance, while the remaining cases follow a recessive mode of transmission. To date, 24 different loci responsible for pure and complex HSP have been mapped. Despite the large and increasing number of HSP loci mapped, only 9 autosomal and 2 X-linked genes have been so far identified, and a clear genetic basis for most forms of HSP remains to be elucidated. -
Clinical Manifestations of Essential Tremor
Journial of Neurology, Neurosurgery, and Psychiatry, 1972, 35, 365-372 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.35.3.365 on 1 June 1972. Downloaded from Clinical manifestations of essential tremor EDMUND CRITCHLEY From the Royal Infirmary, Preston SUMMARY A clinical study of 42 patients with essential tremor is presented. In the case of 12 patients the family history strongly suggested an autosomal dominant mode of transmission, in four the mode of inheritance was indeterminate, and the remaining 26 patients were sporadic cases without an established genetic basis. The tremor involved the upper extremities in 41 patients, the head in 25, lower limbs in 15, and trunk in two. Seven patients showed involvement of speech. Variations were found in the speed and regularity of the tremor. Leg involvement took a variety of forms: (1) direct involvement by tremor; (2) a painful limp associated with forearm tremor; (3) associated dyskinetic movements; (4) ataxia; (5) foot clubbing; and (6) evidence of peroneal muscular atrophy. Several minor symptoms hyperhidrosis, cramps, dyskinetic movements, and ataxia-were associated with essential tremor. Other features were linked phenotypically to the ataxias and system degenerations. Apart from minor alterations in tone, expression, and arm swing, features of Parkinsonism were notably absent. Protected by copyright. Essential tremor has been recognized as an or- much variation. It is occasionally present at rest ganic peculiarity of the nervous system, mimick- and inhibited by action, but is more usually de- ing neurotic and neural disorders with equal creased or absent at rest and present on volun- facility. Many synonyms-for example, benign, tary increase in muscle tonus, as in holding a limb hereditary, and senile tremor-describe its varied in a definite position (static, sustained-postural presentation. -
Amyotrophic Lateral Sclerosis: Disease State Overview Darrell Hulisz, Pharmd, Rph
REPORT Amyotrophic Lateral Sclerosis: Disease State Overview Darrell Hulisz, PharmD, RPh myotrophic lateral sclerosis (ALS), also known as Lou ABSTRACT Gehrig’s disease and motor neuron disease (MND), is a progressive condition caused by the deterioration Amyotrophic lateral sclerosis (ALS) is a disease that results in the of the motor neurons in the spinal cord and brain, progressive deterioration and loss of function of the motor neurons in Aresulting in paralysis.1,2 A-myo-trophic means “no muscle nour- the brain and spinal cord, leading to paralysis. ALS affects approximately ishment” in Greek.3 The lack of nourishment leads to atrophy, or 16,000 individuals, with a prognosis for survival of 2 to 5 years. There are 2 types of ALS differentiated by genetics: familial and sporadic muscle wasting.3 “Lateral” denotes the areas where the nerves that (idiopathic). Diagnosis is determined by excluding other conditions and 3 signal muscles are located in the spinal cord. “Sclerosis” indicates utilizing clinical examinations, laboratory tests, and nerve conduction/ the scarring or hardening of this region.3 electromyography studies. Due to the collection of information from the The father of neurology, French physician Dr Jean-Martin participation of patients with ALS in registries, biomarkers and genes Charcot, is credited with discovering ALS by correlating a series associated with ALS have been discovered. The best practices for the management of ALS include an interdisciplinary approach aimed at of case studies occurring from 1865 to 1869.4,5 Several pioneers in addressing the physical and psychological needs and desires of patients neurology, such as Sir Charles Bell, François-Amilcar Aran, and and their families and caregivers.