Two cases in the same family presented to us with parkinsonian pyramidal syndromes. First case : Male aged 25 years, presented with history of progressive difficulty in walking, hypokinesia, slowness of speech and frequent falls. [neurologyindia.com]

Up to the present no one has undertaken a detailed evaluation of the quantitative amount of cell destruction in these regions in any case. The purpose of this paper is to present the findings of such a study in [jamanetwork.com]

The tremor may be present at rest and increased by voluntary movement. [neupsykey.com]

PMID: 26864383 (This article is OPEN ACCESS if you would like to read it) The researchers who wrote this article were presented with a 10 member Indian family from Aligarh, Uttar Pradesh. [scienceofparkinsons.com]

After 30 years under levodopa she still presents a moderate response but with severe fluctuations of the motor performance. [scielo.br]

• Falling

  First case : Male aged 25 years, presented with history of progressive difficulty in walking, hypokinesia, slowness of speech and frequent falls. There was no history of exposure to toxin, infection, or drug intake. [neurologyindia.com]

  […] brain that occurs at or shortly after birth) metabolic disorder (a disorder that interferes with the body's ability to maintain itself) Damage to the spinal cord is most often caused by trauma, such as a fall or a car crash. [medical-dictionary.thefreedictionary.com]

  Definition A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression [ctdbase.org]

  A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. [curehunter.com]

  Unhealthy Sensation as falling from Ht. : Vertigo. Falling Sensation of swimming in the temporal region : Vertigo. Swimming Sensation of contraction in head : Head. Ext. contraction Sensation of hollowness in the ear: Hearing. [homeobook.com]

• Epilepsy

  Other epilepsy, not intractable, without status epilepticus Other epilepsy NOS G40.81 Other epilepsy, intractable G40.811 Other epilepsy, intractable, with status epilepticus G40.819 Other epilepsy, intractable, without status epilepticus G40.89 Other [en.wikisource.org]

  Progressive Myoclonic, 10 Epilepsy, Progressive Myoclonic 1B Epilepsy, Progressive Myoclonic 3, With Or Without Intracellular Inclusions Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure Epilepsy, Progressive Myoclonic, 6 Episodic Ataxia [familydiagnosis.com]

  Progressive myoclonic epilepsy with ragged red fibers in muscle biopsy. Progressive ataxia but little symptomatic myopathy. Occasionally, hypoventilation of central origin. [accesspediatrics.mhmedical.com]

  As a group, these diseases—along with congenital anomalies (see Chap. 37 ), birth injuries, epilepsy, disharmonies of development, and learning disabilities (see Chap. 27 )—make up the bulk of the clinical problems with which the pediatric neurologist [accessmedicine.mhmedical.com]

  epilepsy Absences: atonic typical Minor epilepsy Petit mal Pykno-epilepsy Seizures: akinetic atonic 345.1 Generalized convulsive epilepsy Epileptic seizures: clonic myoclonic tonic tonic-clonic Grand mal Major epilepsy Excludes: convulsions: NOS (780.39 [theodora.com]

• Rigor

  Numerous other therapies have suggestive roles in Parkinson's disease but have not been rigorously tested, including specific forms of physical exercise, massage therapy, and relaxation techniques. [ncbi.nlm.nih.gov]

  A shivering type of tremor (rigors) may be brought on by cold, but identical movements can be psychogenic. Physiologic tremor is present in normal individuals. [neupsykey.com]

  Type 1 Excludes vitamin K deficiency of newborn ( P53 ) Hyperpyrexia R50.9 ICD-10-CM Diagnosis Code R50.9 Fever, unspecified 2016 2017 2018 2019 Billable/Specific Code Applicable To Fever NOS Fever of unknown origin [FUO] Fever with chills Fever with rigors [icd10data.com]

• Difficulty Walking

  […] with walking and gait. [ncbi.nlm.nih.gov]

  Patients with PD have poor balance, a tendency to fall, and difficulty walking. [neupsykey.com]

• Hypophonia

  Hypomimia- “masked facies”,expressionless face, blinking Speech abnormalities- Hypophonia: soft voice Aprosody of speech: monotonous and lack of inflection Tachyphemia: do not separate syllables together, running words together Patients may eventually [slideplayer.com]

• Muscle Rigidity

  It is clinically characterized by movement disorders such as muscle rigidity, akinesia and tremor. [books.google.de]

  Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ ) Definition (NCI_NCI-GLOSS) A progressive disorder of the nervous system marked by muscle tremors, muscle rigidity, decreased mobility, stooped posture, slow voluntary movements, and a [fpnotebook.com]

  (Otfrid) Forster (1873–1941) has shown that the change in muscle tone resembles but also differs from spasticity. Rigidity is central in origin; spasticity is a response to peripheral or reflex stimulation. [academic.oup.com]

  Rigidity: Stiffness of the limbs and trunk, which may increase during movement. Rigidity may produce muscle aches and pain. Loss of fine hand movements can lead to cramped handwriting (micrographia) and may make eating difficult. [medicinenet.com]

  Muscle Rigidity in Parkinson's Disease Rigidity reflects an abnormal increase in muscle tone and may be continuous and cause the limb to feel like a “lead pipe” or to be ratchety like the movement of a “cogwheel”. [biotechnologyforums.com]

• Vascular Disease

  It may be due to a vascular disease (e.g. diabetes, hypertension), aneurysm (especially of the internal carotid artery), injury or tumour. [medical-dictionary.thefreedictionary.com]

  […] changes 362.10 Background retinopathy, unspecified 362.11 Hypertensive retinopathy 362.12 Exudative retinopathy Coats' syndrome 362.13 Changes in vascular appearance Vascular sheathing of retina Use additional code for any associated atherosclerosis [theodora.com]

• Eruptions

  Synonym: shingles. (06 Mar 1998) herpes zoster ophthalmicus Virus infection of the gasserian ganglion and its nerve branches characterised by pain and vesicular eruptions with much swelling. [kmle.co.kr]

  Erection incomplete Eruption in axilla : Axilla. Eruption Eruption in inner side of thigh : LE. Eruption Emaciation of affected parts : S&C. Emaciation Epilepsy : S&C. Epilepsy False perception of distance : Mind. [homeobook.com]

  […] adenovirus (049.1) aseptic NOS (047.9) Coxsackie (virus) (047.0) ECHO virus (047.1) enterovirus (047.0-047.9) herpes simplex virus (054.72) herpes zoster virus (053.0) lymphocytic choriomeningitis virus (049.0) mumps (072.1) viral NOS (047.9) meningo-eruptive [theodora.com]

  Billable/Specific Code Applicable To Hamman-Rich syndrome Type 1 Excludes pneumocystis pneumonia ( B59 ) Hammer toe (acquired) - see also Deformity, toe, hammer toe Hand - see condition Hand-foot syndrome L27.1 ICD-10-CM Diagnosis Code L27.1 Localized skin eruption [icd10data.com]

• Muscle Spasticity

  When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. [ncbi.nlm.nih.gov]

• Mask-like Facies

  Mask-like facies MedGen UID: 140860 •Concept ID: C0424448 • Finding A lack of facial expression often with staring eyes and a slightly open mouth. [ncbi.nlm.nih.gov]

  Juvenile, of Hunt: 32 (show all 9) # Description HPO Frequency HPO Source Accession 1 dysarthria 32 HP:0001260 2 gait disturbance 32 HP:0001288 3 tremor 32 HP:0001337 4 abnormality of metabolism/homeostasis 32 HP:0001939 5 dystonia 32 HP:0001332 6 mask-like [malacards.org]

  Other conditions to be considered ☞Juvenile Paralysis Agitans of Hunt: Autosomal dominant, this syndrome is characterized by mask-like facies, parkinsonism, tremor, bradykinesia, dysarthria, rigidity, gait disturbance, and flexion dystonia of fingers. [accesspediatrics.mhmedical.com]

  […] homeostasis　(代謝-ホメオスターシス異常)　[HP:0001939] 　Autosomal dominant inheritance　(常染色体優性遺伝)　[HP:0000006] 　Bradykinesia　(寡動)　[HP:0002067]　[02608] 　Dysarthria　(構音障害)　[HP:0001260]　[0230] 　Dystonia　(ジストニア)　[HP:0001332]　[0240] 　Gait disturbance　(歩行障害)　[HP:0001288]　[028] 　Mask-like [syndromefinder.ncchd.go.jp]

• Face Rigidity

  Some of the most common symptoms of Parkinson's disease are: tremor of the hands, arms, legs, jaw and face rigidity or stiffness of the limbs and trunk bradykinesia or slowness of movement postural instability or impaired balance and coordination *from [rosevillepsg.weebly.com]

  Symptoms Young-onset PD is diagnosed similarly to late onset PD with symptoms including: Tremors of the hands, arms, legs, jaw and face Rigidity In Parkinson’s, stiffness of the arms or legs beyond what would result from normal aging or arthritis. [parkinson.org]

• Hypomimia

  Hypomimia- “masked facies”,expressionless face, blinking Speech abnormalities- Hypophonia: soft voice Aprosody of speech: monotonous and lack of inflection Tachyphemia: do not separate syllables together, running words together Patients may eventually [slideplayer.com]

  Facial immobility and lack of expressiveness is a common feature of PD (hypomimia, masked face). [neupsykey.com]

• Uremia

  […] disease (250.6) 357.3 Polyneuropathy in malignant disease Code first underlying disease (140.0-208.9) 357.4 Polyneuropathy in other diseases classified elsewhere Code first underlying disease, as: amyloidosis (277.30-277.39) beriberi (265.0) chronic uremia [theodora.com]

  […] cycle metabolism, unspecified 2016 2017 2018 2019 Billable/Specific Code Applicable To Hyperammonemia Type 1 Excludes hyperammonemia-hyperornithinemia-homocitrullinemia syndrome E72.4 transient hyperammonemia of newborn ( P74.6 ) Hyperazotemia - see Uremia [icd10data.com]

• Tremor

  |On examination - Parkinsonian tremor|On examination - Parkinsonian tremor (finding)|PD - Parkinson's disease|Paleostriatal syndrome|Pallidal atrophy|Pallidal syndrome|Paralysis agitans|Parkinson disease|Parkinson's disease (disorder)|Parkinsonian tremor [averbis.com]

  Human phenotypes related to Paralysis Agitans, Juvenile, of Hunt: 32 (show all 9) # Description HPO Frequency HPO Source Accession 1 dysarthria 32 HP:0001260 2 gait disturbance 32 HP:0001288 3 tremor 32 HP:0001337 4 abnormality of metabolism/homeostasis [malacards.org]

  In the words of (John) Hughlings Jackson (1835–1911), ‘tremor is rigidity spread thin, and rigidity is tremor run together’. [academic.oup.com]

  Postural tremors become evident when the limbs are maintained in an antigravity position (e.g., arms outstretched). Common types of postural tremor are enhanced physiologic tremor and ET. [neupsykey.com]

  Tremor MedGen UID: 21635 •Concept ID: C0040822 • Sign or Symptom An unintentional, oscillating to-and-fro muscle movement about a joint axis. [ncbi.nlm.nih.gov]

• Bradykinesia

  32 HP:0002067 9 parkinsonism 32 HP:0001300 Symptoms via clinical synopsis from OMIM: 57 Neuro: dysarthria gait disturbance tremor rigidity bradykinesia more Misc: onset in teens or earlier very slow progression Facies: masklike facies Lab: degeneration [malacards.org]

  Bradykinesia MedGen UID: 115925 •Concept ID: C0233565 • Sign or Symptom Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness [ncbi.nlm.nih.gov]

  Slowness of motion (bradykinesia) is one of the classic symptoms of Parkinson's disease. [slideplayer.com]

  Diseases related with Melanoma and Bradykinesia In the following list you will find some of the most common rare diseases related to Melanoma and Bradykinesia that can help you solving undiagnosed cases. [mendelian.co]

  Strictly speaking, akinesia means an absence of movement; bradykinesia, a slowness of movement; and hypokinesia, a decreased amount or amplitude of movement, but the term bradykinesia is often used to encompass all three. [neupsykey.com]

• Stroke

  Words describing the distribution of paralysis use the suffix "-plegia," from the Greek word for "stroke." [medical-dictionary.thefreedictionary.com]

  One of the most frequent causes of paralysis is stroke stroke, destruction of brain tissue as a result of intracerebral hemorrhage or infarction caused by thrombosis (clotting) or embolus (obstruction in a blood vessel caused by clotted blood or other [encyclopedia2.thefreedictionary.com]

  Childhood onset of parkinsonism is almost always due to either a genetic cause or due to another injury such as a stroke, brain injury or hydrocephalus. [sharecare.com]

  Stroke : Slurred speech due to weakness or incoordination of the muscles involved in speaking is called dysarthria, and is not a problem with language. [familydiagnosis.com]

• Postural Instability

  Other characteristic symptoms of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). [icdlist.com]

  Another disorder in which a resting tremor is one of the main symptoms, accompanied by slowness and poverty of movement, muscular rigidity, and postural instability is Parkinson's disease Parkinson's disease or Parkinsonism, degenerative brain disorder [encyclopedia2.thefreedictionary.com]

  Some of the most common symptoms of Parkinson's disease are: tremor of the hands, arms, legs, jaw and face rigidity or stiffness of the limbs and trunk bradykinesia or slowness of movement postural instability or impaired balance and coordination *from [rosevillepsg.weebly.com]

  Akinetic, tremor, and postural instability subtypes have been recognized. [neupsykey.com]

  Postural instability Impaired balance and the tendency to fall without explanation, usually when pivoting; a common symptom in the later stages of Parkinson’s. or impaired balance and coordination People with YOPD may experience the same non-motor symptoms [parkinson.org]

• Chorea

  333.5 - Other choreas 333.6 - Genetic torsion dystonia [emedcodes.com]

  As for chorea, most authorities are agreed that the head of the caudate is atrophied in Huntington’s disease, although with changes seen in anatomically nearby structures. [academic.oup.com]

  Chorea chronica progressiva Huntington  autosomálně dominantní (!) [doczz.cz]

  Includes: Huntington's chorea G11 Hereditary ataxia G11.0 Congenital nonprogressive ataxia G11.1 Early-onset cerebellar ataxia Note: Onset usually by the mid-twenties. [emprocell.com]

  Práh pro HCH nastaven na 39. 66 Chorea chronica progressiva Huntington Klinika vůlí nezvladatelné kroutivé pohyby schizofrenní a depresivní rysy smrt interkurentní infekcí 67 Chorea chronica progressiva Huntington kontrolní moze 68 Chorea chronica progressiva [docplayer.cz]

In the presence of typical clinical signs and symptoms and the typical age of onset, extensive workup is not required. Imaging studies are usually normal. [neupsykey.com]

Diagnostic challenges We should be particularly careful in applying the label "Parkinson's Disease" to patients presenting with a rigid-akinetic syndrome of early-onset without the necessary thorough imaging and laboratory workup, including the search [bioscience.org]

• Human Herpesvirus 3

  Synonym: chickenpox virus, herpes zoster virus, human herpesvirus 3. (05 Mar 2000) varicella-zoster virus protease <enzyme> Amino acid sequence given in first source Registry number: EC 3.4.21.- Synonym: vzv protease, gene 33 product, vzv (26 Jun 1999 [kmle.co.kr]

Therapy and Treatment When it comes to medical treatment, people with YOPD have a significantly greater risk of developing the following: Dyskinesias or involuntary movements (most commonly dystonia) as a side effect of carbidopa A medication used together [parkinson.org]

A patient with Juvenile PD developed PG soon after beginning treatment with pergolide, a mixed D1/D2 dopamine agonist that is also supposed to exhibit D3 activity. This behavior remitted upon the discontinuation of the drug. [journals.lww.com]

Co-treatment with carbidopa allows for a lower levodopa dose, thereby reducing side effects. [medicinenet.com]

Charcot’s British contemporary, WR Gowers, followed similar treatment strategies. [ncbi.nlm.nih.gov]

At the age of 17 years, the orphenadine treatment was withdrawn. [kundoc.com]

The prognosis and treatment are determined by the disease that caused the paralysis. Among the special methods used to restore the functions of the extremity are massage and remedial gymnastics. REFERENCES Krol’, M. B., and E. A. Fedorova. [encyclopedia2.thefreedictionary.com]

Dopa-responsive dystonia: long term treatment, response and prognosis. Neurology. 1991; 41: 174-181 PubMed Crossref Google Scholar Ota Y. Sawako M. Ueda O. Mukai T. Maeda A. Familial paralysis agitans juvenilis. [jns-journal.com]

Treatment and prognosis The mainstay of treatment is medical. In patients with refractory symptoms, deep brain stimulation may be useful 15. [radiopaedia.org]

Clinical manifestations and prognosis of patients with Ramsay Hunt syndrome. Am J Otolaryngol 2012;33(3):313-8. Morishima N, Yagi R, Shimizu K, Ota S. Prognostic factors of synkinesis after Bell's palsy and Ramsay Hunt syndrome. [kjorl.org]

Prognosis The likelihood of recovery from paralysis depends on what is causing it and how much damage has been done to the nervous system. Prevention Prevention of paralysis depends on prevention of the underlying causes. [medical-dictionary.thefreedictionary.com]

영문 초록 Childhood ataxia with diffuse central nervous system hypomyelination(CACH) syndrome is a recently described leukodystrophy of unknown etiology. The patients show normal development until the age from ... [더보기] [scholar.dkyobobook.co.kr]

Drug induced parkinsonism Hypoxia Tumor Trauma Vascular:Multiinfarct Toxin:Mn, CO, MPTP and cyanide Post-encephalitic parkinsonism (von Economo’s encephalitis) Normal pressure hydrocephalus Wilson’s disease, Hutington’s disease 17 Classification and Etiology [slideplayer.com]

Joseph Jankovic MD : Current understanding of etiology and pathogenesis of Parkinson's Disease. American Academy of Neurology, Annual Courses 1995; 4 : 1271-1272. [neurologyindia.com]

Changes in the internal properties of an organism, caused by environmental factors and firmly fixed (including those fixed by hereditary mechanisms), may themselves eventually play a leading role in the development of disease. (2) Besides the etiological [encyclopedia2.thefreedictionary.com]

Acute retinal necrosis syndrome Necrotizing retinitis with uveitis and other retinal pathology, severe loss of vision, and often retinal detachment; of viral etiology. [scribd.com]

Current epidemiological and biochemical evidence leads to the hypothesis that the brothers have impaired ability to synthesize dopamine, possibly because of an inherited deficiency of tyrosine hydroxylase enzyme. [jamanetwork.com]

Hereditary juvenile epithelial dystrophy of cornea meesmann corneal dystrophy 遺傳性青少年性角膜上皮營養不良 Analysis of phase - change related endogenous hormone changes in juvenile and mature of phellodendron amurense 黃波羅不同年齡材料微繁苗內源激素的比較分析 Epidemiological analysis [dict.site]

Clinical, pharmacological, evolutive, and epidemiological data were collected on all patients. [onlinelibrary.wiley.com]

Introduction Parkinson’s disease is a chronic neurodegenerative movement disorder affecting voluntary and emotional movements and most commonly seen in the elderly, but is also found in the young and inexorably progresses leading to significant disability. 5 Epidemiology [slideplayer.com]

EPIDEMIOLOGY AND GENETICS There are no systematic epidemiological surveys of parkinsonism of early onset, however, most reports agree that in the western hemisphere, approximately 5 to 7% of patients with PD in referral populations develop their symptomatology [bioscience.org]

9 GLOBUS, PARS RETICULATA PATHOPHYSIOLOGY DA SUBSTANTIA NIGRA GLOBUS, PARS RETICULATA ACH GABA STRIATUM CAUDATE, PUTAMEN 10 Chemical Balance in Corpus Striatum Excitatory Cholinergic pathway Inhibitory Dopaminergic pathway BALANCE 11 Chemical Balance [slideplayer.com]

[…] often observed (cerebellar dentate nucleus, degeneration of globus pallidus, elevated cerebrospinal fluid uric acid); muscle biopsy shows the presence of ragged red fibers that probably are caused by mitochondrial abnormalities, which could explain the pathophysiology [accesspediatrics.mhmedical.com]

The pathophysiology of parkinsonism is complex. [neupsykey.com]

In recent years, the contributions made by molecular genetics, pharmacology, physiology, and clinical neuropsychology have allowed us to make significant advances in the understanding of the pathophysiology and pathogenesis of PD as a whole, and of EOPD [bioscience.org]

Initial clinical manifestations of Parkinson’s disease: features and pathophysiological mechanisms. Lancet Neurol, 8(12): 1128-1139. 8. Jankovic J (2008). Parkinson’s disease: clinical features and diagnosis. [biotechnologyforums.com]

Prevention Prevention of paralysis depends on prevention of the underlying causes. Risk of stroke can be reduced by controlling high blood pressure and cholesterol levels. [medical-dictionary.thefreedictionary.com]

Prevent hyperventilation (hypocarbia) which may trigger seizures. Monitor carefully the hemodynamics because of MAO inhibitors. There is frequent interaction between drugs commonly used to treat the condition and anesthetic agents. [accessanesthesiology.mhmedical.com]

Genetic factors may contribute to the pathogenesis of Parkinson's disease (PD) by several mechanisms, such as preventing normal development of dopaminergic neurons, delayed programming or accelerated cell death, interfering with normal protective mechanisms [neurologyindia.com]

Therefore, parkin loss of function, as happens in autosomal recessive juvenile Parkinson (AR-JP), prevents degradation of parkin substrates (i.e. GPR37), thus resulting in their toxic accumulation. [ub.edu]