Symptoma

X-linked Parkinsonism-Spasticity Syndrome

XPDS

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]

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

363654 Classification level: Disorder Synonym(s): XPDS Prevalence: 1 / 1 000 000 Inheritance: X-linked recessive Age of onset: Adolescent, Adult ICD-10: G20 OMIM: 300911 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

  • Photosensitivity

    MalaCards based summary : Parkinsonism with Spasticity, X-Linked, also known as xpds, is related to xeroderma pigmentosum, complementation group d and trichothiodystrophy 1, photosensitive, and has symptoms including bradykinesia, cogwheel rigidity and [malacards.org]

    Kufs disease type B (adult neuronal ceroid lipofuscinosis): In adolescence to middle age adulthood, two clinical Kufs phenotypes emerge; type A, featuring progressive myoclonic epilepsy with marked photosensitive and generalized tonic-clonic seizures [neuroweb.us]

  • Hypomimia

    Homepage Rare diseases Search Search for a rare disease X-linked parkinsonism-spasticity syndrome Disease definition A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia [orpha.net]

    By the 15th year of illness, the predominant picture is one of parkinsonism manifesting as tremors, bradykinesia, masked facies, hypomimia and drooling; labeled as the parkinsonian phase. [e-jmd.org]

    For example, the lack of facial expression and flat affect in depression can be confused with the hypomimia of PD. [ncbi.nlm.nih.gov]

    […] spinal cord extrapyramidal movement disorder not involving the corticospinal tracts; typically refers to basal ganglia or cerebellar disorders F-wave long latency muscle action potential seen after supramaximal stimulation to a nerve facial masking (hypomimia [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]

  • Onset in Adolescence

    […] spreads to the proximal limb; diurnal fluctuation; dopa-responsive mutations in the guanosine triphosphate (GTP) cyclohydrolase I and tyrosine hydroxylase genes Autosomal dominant DYT5b 11p15.5 Dopa-responsive dystonia Autosomal recessive DYT6 8p21-22 Onset [emedicine.medscape.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]

    Differentiate from Parkinson by noting absence of resting tremor, rigidity, bradykinesia, etc. [stanfordmedicine25.stanford.edu]

  • Hyperactive Deep Tendon Reflexes

    deep tendon reflexes and Babinski sign. [orpha.net]

    deep tendon reflexes Ankle clonus Mask-like facies Paroxysmal choreoathetosis Congestive heart failure Encephalopathy Restlessness Lack of insight Frontal cortical atrophy Hyperorality Dyscalculia Perseveration Inappropriate behavior Dysgraphia Disinhibition [mendelian.co]

    She had bilateral hyperactive deep tendon reflexes and positive Hoffmann signs. Extensor plantar response and patellar clonus were observed on the left side. [translationalneurodegeneration.biomedcentral.com]

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]

  • Dyslipidemia

    Kompoliti’s include the gender differences in Parkinson’s disease and other movement disorders, studies to define the effect of neuroleptics on weight, risk for diabetes and dyslipidemia in patients with Tourette syndrome, and define the current status [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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 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]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]

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]