It is a movement disorder presenting primarily with a combination of bradykinesia, rigidity and tremor. However, it has a variable presentation, including the presence of non-motor symptoms such as cognitive impairment and sleep disturbance. [ncbi.nlm.nih.gov]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.com]

[…] as DLBD presents with cognitive and psychiatric signs in 72% cases as compared to PD (6%). [10] Corticobasal degeneration (CBD) is strikingly asymmetrical in its presentation, mimicking IPD. [12] Also, unlike other akinetic rigid syndromes, there is [annalsofian.org]

It presents with torsion dystonia, particularly when presenting at a younger age, which then progresses to parkinsonism with or without ongoing dystonia. Often the two symptoms coexist. [en.wikipedia.org]

Acronym XPDS Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Movement Disorder

  In addition, he established the Rush Movement Disorder Surgery Program and serves as its Medical Director. His clinical research interests include the development of new medical and surgical therapies for patients with advanced movement disorders. [books.google.com]

  […] and Movement Disorders. [en.wikipedia.org]

  Overview of movement and cerebellar disorders. Merck Manual Professional Version. http://www.merckmanuals.com/professional/neurologic-disorders/movement-and-cerebellar-disorders/overview-of-movement-and-cerebellar-disorders. Accessed Aug. 15, 2017. [mayoclinic.org]

  […] of Sleep Myoclonus Tics and Tourette’s syndrome Chorea, ballism and Huntington’s disease Other movement disorders Paroxysmal dyskinesias Psychogenic movement disorders Gait disorders or imbalance Hemifacial spasm Tardive dyskinesias Painful legs moving [movementdisorders.us]

  movement There are many different movement disorders. [medlineplus.gov]

• Weight Loss

  During this period Mr Infante also suffered worsening chronic back pain, decline in gait with frequent falls, dysphagia that progressed to the point of significant dietary modification and weight loss from 85.7 kilograms to 68 kilograms in three months [exeley.com]

  Hypotension can also be helped by: avoiding caffeine in the evenings eating frequent, small meals, rather than large ones avoiding alcohol Around 50% of people with Parkinson's disease will experience some unintentional weight loss. [hse.ie]

  The disease begins with insomnia and progresses to hallucinations, rapid weight loss, dementia, and death. [bitanlab.neurology.ucla.edu]

  Evaluation by a speech therapist is essential to minimize problems due to dysphagia and weight loss. Dystonia of the lower face and tongue can result in severe tongue and lip self-mutilation in ChAc and may be ameliorated by a bite plate. [ojrd.biomedcentral.com]

  Chorea (“clumsiness, fidgety”, tongue 'akathisia') is the presenting manifestation in 2/3 of patients while the remainder present with personality or cognitive changes, weight loss, dysarthria, dysphagia or gait disturbance. [neuroweb.us]

• Impaired Balance

  Symptoms Young-onset PD is diagnosed similarly to late onset PD with symptoms including: Tremors of the hands, arms, legs, jaw and face Rigidity of the limbs and trunk Bradykinesia Postural instability or impaired balance and coordination People with [parkinson.org]

  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). [ghr.nlm.nih.gov]

  Symptoms include rigidity, impaired balance, and problems with coordination. [ninds.nih.gov]

• Collapse

  […] posture or position against gravity posture ability to stand upright automatically against gravity; controlled by the vestibulospinal, reticulospinal, and tectospinal pathways Pott’s disease tuberculous involvement of the vertebral column with vertebral collapse [strokecenter.org]

• Trisomy 21

  21 Dravet Syndrome Edwards Syndrome/Trisomy 18 Fragile X Syndrome Fumarase Deficiency GLUT1-DS Condition Glutaric Aciduria Type 1 Goldenhar’s Syndrome Hunter Syndrome Hurler-Scheie Syndrome Hypomyelination Incomplete Corpus Callosum/Aicardi Syndrome [bladderbowel.gov.au]

• Muscle Rigidity

  Parkinson's Disease is a progressive disorder of the nervous system marked by muscle tremors, muscle rigidity, decreased mobility, stooped posture, slow voluntary movements, and a mask-like facial expression. [patientslikeme.com]

  Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. [medvik.cz]

  Other causes of parkinsonism "Parkinsonism" is the umbrella term used to describe the symptoms of tremors, muscle rigidity and slowness of movement. [nhs.uk]

  Parkinson's produces many common symptoms, including tremor; muscle rigidity or stiffness of the limbs; gradual loss of spontaneous movement, often leading to decreased mental skill or reaction time, voice changes or decreased facial expression; gradual [aans.org]

• Muscle Cramp

  […] stiffness (rigidity) – stiffness and tension in the muscles, which can make it difficult to move around and make facial expressions, and can result in painful muscle cramps (dystonia) These main symptoms are sometimes referred to by doctors as parkinsonism [nhs.uk]

  The continuous muscle cramping and spasms can be disabling. Depending on which muscles are affected, widespread (generalized) dystonia can cause difficulty with speaking, swallowing, coordination, and walking. [ghr.nlm.nih.gov]

  In a typical case of XDP, as seen with Mr G Infante, the symptoms that lead to a diagnosis include continous muscle cramping and spasms, postural instability, blepharospasms, difficulties with speaking, swallowing, coordination and walking (Lee, et al [exeley.com]

  Muscle cramps and dystonia. The rigidity and lack of normal movement associated with PD often causes muscle cramps, especially in the legs and toes. [ninds.nih.gov]

  cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord. [bitanlab.neurology.ucla.edu]

• Visual Impairment

  impairment Limb dystonia Language impairment Impaired vibratory sensation Dysphonia Ischemic stroke Torticollis Sensory axonal neuropathy Unsteady gait Peripheral axonal neuropathy Brain atrophy Cerebral cortical atrophy Intellectual disability, moderate [mendelian.co]

  The symptoms found in complex HSP patients include neuropathy (7/17), cerebellar signs (6/17), mental retardation (5/17), tremor (3/17), and visual impairment (1/17). [translationalneurodegeneration.biomedcentral.com]

  […] susceptibility to, X-linked 5 DMDBecker muscular dystrophy PLS3Bone mineral density quantitative trait locus 18 PHF6Borjeson-Forssman-Lehmann syndrome ARBulbo-spinal atrophy X-linked FLNACardiac valvular dysplasia, X-linked EMDCardiomyopathy AMOTCerebral visual [invictagenetics.com]

  AMD is a major cause of blindness and visual impairment in people >50 years old. Approximately 10% of people 66–74 years old have findings of macular degeneration. The prevalence increases to 30% in people 75–85 years old. [bitanlab.neurology.ucla.edu]

  Additional features include cerebellar ataxia, peripheral neuropathy, amyotrophy, extrapyramidal symptoms, cognitive impairment, deafness and visual impairment [1]. [journals.plos.org]

• Suggestibility

  The genomic region containing TAF1 has also been suggested to play an important role in a condition in the Philippines called X-linked dystonia-parkinsonism (XDP). [mdsabstracts.org]

  […] below. 9 Further subdivision of pure HSP was also suggested by Harding based on the age of onset of the disease. [jnnp.bmj.com]

  Further studies are needed to confirm the findings, but given that aspects of metabolic syndrome are potentially modifiable, the results suggest that that doing so might have an impact on Parkinson’s disease progression. [neurologyadvisor.com]

• Increased Libido

  For some people, dopamine agonists, especially at high doses, have been linked to the development of compulsive behaviours, including pathological gambling, increased libido and hypersexuality. [hse.ie]

• Compulsive Behavior

  Recent studies have shown that REM sleep behavior disorder is a marker of synucleinopathies and indicates higher risk of developing Lewy body dementia or Parkinson disease dementia. [merckmanuals.com]

• Abnormal Behavior

  behavior intrudes into the sleep process; includes somnambulism, night terrors, and bruxism parasympathetic nervous system part of the autonomic nervous system concerned with conservation and restoration of energy; its preganglionic fibers arise from [strokecenter.org]

• Mask-like Facies

  Cardiomyopathy Primitive reflex Emotional lability Abnormality of extrapyramidal motor function Focal-onset seizure Cerebellar atrophy Dilated third ventricle Scissor gait Dilation of lateral ventricles Hyperactive deep tendon reflexes Ankle clonus Mask-like [mendelian.co]

• Face Rigidity

  Symptoms Young-onset PD is diagnosed similarly to late onset PD with symptoms including: Tremors of the hands, arms, legs, jaw and face Rigidity of the limbs and trunk Bradykinesia Postural instability or impaired balance and coordination People with [parkinson.org]

• Stroke

  Development and validation of a short form of the Fugl-Meyer motor scale in patients with stroke. Stroke 2007;38:3052-4. Cooper A, Musa IM, van Deursen R, Wiles CM. [hersenletsel-uitleg.nl]

  […] or Parkinsonian syndromes Parkinson’s disease Atypical parkinsonism, including Progressive Supranuclear Palsy (PSP), Multiple System Atrophy (MSA), and Corticobasal Ganglionic Degeneration (CDGD) Secondary parkinsonism from various causes including stroke [movementdisorders.us]

  Heart & Stroke Conditions Explained Definition Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome (commonly known as WPW) is a condition where an extra conduction (electrical) pathway, called an accessory pathway, connects the upper and lower [irishheart.ie]

  Causes of movement disorders include Genetics Infections Medicines Damage to the brain, spinal cord, or peripheral nerves Metabolic disorders Stroke and vascular diseases Toxins Treatment varies by disorder. Medicines can cure some disorders. [medlineplus.gov]

  On examination - muscle tone spastic (finding) {163650000, SNOMED-CT } Spastic paralysis (finding) {78403003, SNOMED-CT } Spastic paraparesis (finding) {312444006, SNOMED-CT } Spastic paresis (finding) {371028005, SNOMED-CT } Spasticity as sequela of stroke [phinvads.cdc.gov]

• Seizure

  Some patients develop seizures. [mendelian.co]

  Seizures are divided into two major categories: generalized seizures (a result of abnormal activity in most or all of the brain) and partial seizures (originating in a specific area of the brain). [britannica.com]

  (petit mal seizure) generalized seizure characterized by abrupt cessation of ongoing activity with a blank stare and lost or impaired consciousness lasting on average 10-20 seconds abulia loss of will, impulse, and decision-making ability acalculia " [strokecenter.org]

  […] associated with PTPN11, which encodes for a protein-tyrosine phosphatase - juvenile myelomonocytic leukemia, Leopard syndrome, and Noonan syndrome Dystonia - a complex neurological disorder characterized by involuntary muscle contractions Epilepsy and seizure [sdbonline.org]

  Age at onset of MELAS syndrome was described as the age at which the patient experienced his or her first seizure or strokelike event based on clinical history and medical records. [jamanetwork.com]

• Resting Tremor

  Related phenotypes are cogwheel rigidity and resting tremor [malacards.org]

  Definition A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. [uniprot.org]

  tremors include Wilson's Disease and severe essential tremor (ET is usually postural but when servere can be seen at rest or even with movement) Resting Tremor Postural Tremor Action Tremor Description Tremor when skeletal muscle is at rest. [stanfordmedicine25.stanford.edu]

• Involuntary Movements

  Tardive dyskinesia causes repetitive and involuntary movements such as grimacing, eye blinking and other movements. Tourette syndrome. [mayoclinic.org]

  Involuntary movements compose a group of uncontrolled movements that may manifest as a tremor, tic, myoclonic jerk, chorea, athetosis, dystonia or hemiballism. [stanfordmedicine25.stanford.edu]

  movements in the first decade of life. [mendelian.co]

  […] delay, reduced CSF glucose levels, hemolytic anemia with echinocytosis, and altered erythrocyte ion concentrations DYT-19 Might Exist Autosomal Dominant DYT-20 2q31 paroxysmal nonkinesigenic dyskinesia 2 Autosomal Dominant Characterized by attacks of involuntary [cmdg.org]

  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/levodopa (the drug prescribed [parkinson.org]

• Irritability

  In these people WPW signs and symptoms may include: Chest pain Chest tightness Difficulty breathing Fainting Symptoms in infants Signs and symptoms in infants with WPW syndrome may include: Ashen color Restlessness or irritability Rapid breathing Poor [mayoclinic.org]

  […] of sulfate moiety of the glycosaminoglycan, dermatan sulfate sv Vill du ha ett ärligt förhållande med Lana borde du sluta testa henne en Other parameters that may be considered are those indicative of lysosomal injury, phospholipidosis, fibrosis, and irritant [sv.glosbe.com]

  Irritation of a temporal lobe may lead to auditory or olfactory hallucinations. [britannica.com]

  Psychogeriatr. 2013 Feb 21:1-11 Neuropsychiatric Symptoms in AD and Functional Connectivity Alterations A correlation between increased connectivity in anterior cingulate cortex and right insula areas of the SN and hyperactivity syndrome (agitation, irritability [practicalneurology.com]

  These often include the following: Fatigue or general malaise Trembling Difficulty arising from a seated position Lowered voice volume (dysarthria) Small, cramped, spidery handwriting Losing track of a word or thought Irritability or sadness for no apparent [columbianeurosurgery.org]

Our findings confirm that this is indeed not an uncommon presentation of this disorder and we suggest that SPG7 gene analysis should be included in the diagnostic workup of autosomal recessive PEO, especially if spasticity is present. [journals.plos.org]

[…] refractory periods) of the accessory pathway and the normal atrioventricular (AV) nodal and His Purkinje conduction system The number and locations of accessory pathways (necessary for catheter ablation) The response to pharmacologic or ablation therapy See Workup [emedicine.medscape.com]

This may be carried out in hospital if the above treatments don't work. [nhs.uk]

Treatment options The treatment options for Wolff-Parkinson-White syndrome depend on the severity, but can include: Vagal manoeuvres - Use of various 'tricks' that may cause a nerve reflex to slow the heart rate. [betterhealth.vic.gov.au]

At present there is no cure, although there are treatments which can help to alleviate symptoms. [change.org]

Botulinum toxin treatment of adult spasticity : a benefit-risk assessment. Drug Saf 2006;29:31-48. Satila H, Kotamaki A, Koivikko M, Autti-Ramo I. Low- and high-dose botulinum toxin A treatment: a retrospective analysis. [hersenletsel-uitleg.nl]

The treatment cures WPW about 95 percent of the time. Complications WPW is not a dangerous disease for most people. You can manage or correct the condition with treatment. [hopkinsmedicine.org]

It is not intended to provide instruction and you should not rely on this information to determine diagnosis, prognosis or a course of treatment. It should not be used in place of a professional consultation with a doctor. [dystonia.org.uk]

Prognosis Prognosis is usually very good once treated.[16]Catheter ablation may be curative. [patient.info]

Once the condition has been identified and treated appropriately, people with WPW syndrome have an excellent prognosis. [irishheart.ie]

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

Although the exact etiology is unknown, it is believed that the CNS damage increases the excitability of the stretch reflex receptors in the muscles, causing the muscles to contract in response. [news-medical.net]

Parkinsonism More Details can be caused by diverse etiologies. [annalsofian.org]

A study by McClelland et al indicated that there are significant differences in the rate and pattern of pallidal firing according to the etiology and phenotype of dystonia. [emedicine.medscape.com]

Scope - Overview of Parkinson's disease, including etiology, pathophysiology, motor and non-motor symptoms, and quality of life.- Annualized Parkinson's disease market revenue, annual cost of therapy and treatment usage pattern data from 2012 and forecast [finanzaonline.com]

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat. 2010 Jul;31(7):763-80. doi: 10.1002/humu.21277. Review. Pankratz N, Foroud T. [ghr.nlm.nih.gov]

This sparked an epidemiological survey which was published in 1976. Lee et al. described a series of 28 men, 23 of whom were from Panay Island. [en.wikipedia.org]

Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics. Brain. 2003;126:685-91. Hou J-G, Jankovic J. Movement disorders in Friedreich's ataxia. J Neurol Sci. 2003;206:59-64. Jankovic J, Tolosa E, eds. [bcm.edu]

Epidemiology WPW syndrome is relatively common and found in 2 to 4 people per 1,000 population. In adults, it is more common in males.[2] WPW syndrome is found in all ages, although it is most common in young, previously healthy people. [patient.info]

Epidemiology The prevalence of HSP varies in different studies. Such variation is probably due to a combination of differing diagnostic criteria, variable epidemiological methodology, and geographical factors. [jnnp.bmj.com]

Pathophysiology The specific pathophysiology of spasticity is not clear but several theories have been suggested to explain the cause of the condition. [news-medical.net]

A better understanding of neural characteristics and determinants of physiological movements, motor development and motor control in healthy humans, and delineation of the pathophysiology of movement disorders are the main themes of our group. [neurogenetics-luebeck.de]

In this article, we introduce recent advances in the understanding of the interplay between pathophysiology and genetics in XDP. [mdpi.com]

This video describes the pathophysiology, clinical signs, and treatment for WPW. [commons.wikimedia.org]

Prevention Wolff-Parkinson-White Syndrome If treatment is needed, the goal is to slow a fast heart rate when it occurs and to prevent future episodes. [irishheart.ie]

How to Manage or Live with WPW There is no way to prevent WPW, but you can prevent complications by learning as much as you can about the disease and working closely with your cardiologist to find the best treatment. [hopkinsmedicine.org]

Preventing further episodes Techniques and treatments that can help prevent episodes include: Lifestyle changes – if your episodes are triggered by things such as strenuous exercise or alcohol, avoiding these may help. [nhs.uk]

The goals of identifying and treating WPW are to eliminate symptoms, prevent the occurrence of SCD, and permit the patient to participate in activities without restriction. John Triedman Vol. 25, Issue 3, p261–262 Abstract Full-Text HTML PDF [journals.elsevier.com]

There is no way to prevent WPW, but you can prevent complications by learning as much as you can about the disease. Work closely with your cardiologist (healthcare provider who specializes in diseases of the heart) to find the best treatment. [cedars-sinai.org]