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]

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]

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

• Lymphocytic Disease

  183 48 184 64 189 62 196 65 198 69 202 72 204 76 208 78 210 80 212 85 216 92 222 95 225 110 238 125 251 Sheehan Syndrome 328 EMERGINGINFECTIOUS 30 Thyroiditis Chronic Lymphocytic DISEASES 277 31 ZollingerEllison Syndrome 330 11 368 Lynch Syndromes 401 [books.google.com]

• Skin Thickening

  Joseph Merrick (also known as the Elephant Man), a resident of the London Hospital in the 1880s, may have suffered from this condition, his skin thickened by large numbers of nerve and skin tumours. [britannica.com]

• 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]

• Facial Numbness

  Facial nerve The facial nerve is damaged most commonly by swelling within the facial canal in the temporal bone that results from viral infection. [britannica.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]

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]

It is often the case that sufferers are isolated and unable to access treatment or support due to the financial burdens of both living with the disease and the treatments themselves. [exeley.com]

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]

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]