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X-linked Parkinsonism-Spasticity Syndrome

XPDS


Presentation

  • Acronym XPDS Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • 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]
  • She is board certified in Neurology (1997-present) and is a member of the American Academy of Neurology, the American Neurological Association and the Movement Disorder Society.[books.google.com]
  • X-linked parkinsonism with spasticity (XPDS) presents either as typical adult onset Parkinson's disease or earlier onset spasticity followed by parkinsonism. We previously mapped the XPDS gene to a 28 Mb region on Xp11.2-X13.3.[ncbi.nlm.nih.gov]
  • We recently identified a multigenerational family of Danish and German descent in which five males in three generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity for which X-linked disease[ncbi.nlm.nih.gov]
Pathologist
  • She is a licensed physician since 1987, licensed pathologist since 1991 and she gained her title as Doctor in Medical Sciences in 1986.[books.google.com]
  • University of Washington, Seattle; Available from: PMID: 20301334 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic[invitae.com]
Antipsychotic Agent
  • agents, metoclopramide, prochloperazine Encephalitis (HIV/AIDS, neurosyphilis, PML, toxoplasmosis) Chronic head trauma Note: other resting tremors include Wilson's Disease and severe essential tremor (ET is usually postural but when servere can be seen[stanfordmedicine25.stanford.edu]
Bradykinesia
  • UniProtKB/Swiss-Prot : 75 Parkinsonism with spasticity, X-linked: A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.[malacards.org]
  • Format Definition A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.[uniprot.org]
  • PD is characterized by tremor, rigidity, bradykinesia, poor balance, and difficulty with walking. Non-motor findings include insomnia, depression, anxiety, behavioral problems, at a later stage of the disease psychosis and dementia may occur.[asperbio.com]
  • NEW YORK, Oct. 7, 2015 /PRNewswire/ -- PharmaPoint: Parkinson's Disease - Global Drug Forecast and Market Analysis to 2022 - Event-Driven Update Summary Parkinson's disease is a progressive condition that is characterized by bradykinesia, muscular rigidity[finanzaonline.com]
  • Parkinson disease is classically characterized by a triad of features: resting tremor rigidity bradykinesia (postural instability: sometimes added as a fourth cardinal feature 3 ) Dementia can be a late feature.[radiopaedia.org]
Resting Tremor
  • Format 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]
  • Hawley First published February 16, 2015, DOI: PEARLS Fragile X tremor/ataxia syndrome (FXTAS) can include kinetic or resting tremor, ataxia, cognitive decline, and autonomic symptoms.[neurology.org]
  • Parkinson disease is classically characterized by a triad of features: resting tremor rigidity bradykinesia (postural instability: sometimes added as a fourth cardinal feature 3 ) Dementia can be a late feature.[radiopaedia.org]
Resting Tremor
  • Format 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]
  • Hawley First published February 16, 2015, DOI: PEARLS Fragile X tremor/ataxia syndrome (FXTAS) can include kinetic or resting tremor, ataxia, cognitive decline, and autonomic symptoms.[neurology.org]
  • Parkinson disease is classically characterized by a triad of features: resting tremor rigidity bradykinesia (postural instability: sometimes added as a fourth cardinal feature 3 ) Dementia can be a late feature.[radiopaedia.org]
Cogwheel Rigidity
  • UniProtKB/Swiss-Prot : 75 Parkinsonism with spasticity, X-linked: A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.[malacards.org]
  • Format Definition A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.[uniprot.org]

Workup

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]

Treatment

  • 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]
  • As levodopa is so frequently used in treatment this will amount to many thousands of people.[dystonia.org.uk]
  • In that case, the goal of treatment is to improve symptoms and relieve pain. Tics (Nemours Foundation)[medlineplus.gov]
  • Effectiveness and safety of treatments for degenerative ataxias: a systematic review. Mov Disord. 2009;24:1111-24. Wilkins A, Brown JM, Barker RA.[bcm.edu]

Prognosis

  • 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]
  • Treatment and prognosis The mainstay of treatment is medical. In patients with refractory symptoms, deep brain stimulation may be useful.[radiopaedia.org]
  • Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals.[en.wikipedia.org]
  • A confirmed genetic diagnosis may help predict disease prognosis and progression, facilitate early detection and treatment of symptoms, inform family planning and carrier screening, or promote enrollment in clinical trials.[invitae.com]
  • Disorders, the prognosis of which differs significantly from HSP, such as multiple sclerosis and familial motor neuron disease should also be excluded. The necessity for investigations will vary depending on the individual clinical picture.[jnnp.bmj.com]

Etiology

  • 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]
  • 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]

Epidemiology

  • 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 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]
  • The majority of individuals with HSP have a normal life expectancy. [16] Epidemiology [ edit ] Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [34] A Norwegian study of more than 2.5[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • Dümcke-Zilian (Secretary) Michaela Zander-Deuerling (Secretary) Research Interests A better understanding of neural characteristics and determinants of physiological movements, motor development and motor control in healthy humans, and delineation of the pathophysiology[cbbm.uni-luebeck.de]
  • 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]

Prevention

  • 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]
  • Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being.[en.wikipedia.org]
  • Germaine's Children's Charity, a La Jolla based non-profit organization for child abuse prevention, serving as treasurer for 10 years, and currently is a member. Presently, she is a member of the Children's Hospital Trusts and Estate Committee.[adcy5.org]
  • Skin care and eventual placement of PEG tube (feeding tube) in patients with swallowing difficulties will help prevent lung infections. For more information, see Appendix - Classification of Spinocerebellar Ataxias.[bcm.edu]
  • […] dopaminergic drugs for parkinsonism for: Adverse neuropsychiatric effects Psychiatric symptoms Worsening of parkinsonism Nutrition Monitoring of height and weight in children Swallowing evaluation and regular dietary assessments Assure adequate nutrition Prevent[nbiacure.org]

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