Presentation
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]
Entire Body System
- Developmental Delay
Common symptoms include: Developmental delay Usually the first change that is noticed Expressive language is significantly affected and kids usually develop few to no words Could also be an overall developmental delay Cognitive (mental) decline Can progress [nbiacure.org]
DYSTONIA 16 Is also known as dyt16|early-onset dystonia parkinsonism Related symptoms: Intellectual disability Global developmental delay Pain Cognitive impairment Delayed speech and language development SOURCES: OMIM ORPHANET MESH MENDELIAN More info [mendelian.co]
Delay Developmental Delay associated with Autism, Autism Spectrum Disorder and Aspergers Syndrome Down Syndrome/Trisomy 21 Dravet Syndrome Edwards Syndrome/Trisomy 18 Fragile X Syndrome Fumarase Deficiency GLUT1-DS Condition Glutaric Aciduria Type 1 [bladderbowel.gov.au]
Session Information Session Time: 12:30pm-2:00pm Location: Exhibit Hall located in Hall B, Level 2 Objective: We set out to discover the genetic basis of an X-linked genetic syndrome presenting with global developmental delay, intellectual disability, [mdsabstracts.org]
- 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]
- 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: http://www.ncbi.nlm.nih.gov/books/NBK1155/ PMID: 20301334 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments [invitae.com]
- Hypersomnia
Increased sleepiness, or hypersomnia, may be the cause of drowsiness or narcolepsy. Narcolepsy may be described as an intrusion of REM sleep into the waking hours. [britannica.com]
Face, Head & Neck
- 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]
Neurologic
- 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]
- Akinesia
PHENOTYPIC SPECTRUM OF PROGRESSIVE SUPRANUCLEAR PALSY typical PSP phenotype- Richardson syndrome PSP-p = PD at least at the initial stages, with asymmetric parkinsonism, rest-tremor, better levodopa response, longer mean survival pure akinesia with [slideshare.net]
Neuronal loss in central nervous system Parkinsonism Bradykinesia Involuntary movements Abnormal pyramidal sign Spasticity Intellectual disability Myoclonus Dementia Postural instability Babinski sign Resting tremor Orofacial dyskinesia Alzheimer disease Akinesia [mendelian.co]
Ann Indian Acad Neurol 2007;10:21-30 Akinetic rigid syndrome implies slowness of initiation of movement specially involving upper body (akinesia) and rigidity characterized by abnormal stiffness due to increase in tone of both the agonist and antagonist [annalsofian.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]
Eventually, the period of improvement after each dose shortens, and drug-induced dyskinesias result in swings from akinesia to dyskinesias. [merckmanuals.com]
- Apraxia
[…] alien-limb phenomena cortical sensory loss visual or sensory hemineglect constructional apraxia focal or asymmetric myoclonus apraxia of speech or nonfluent aphasia 61. [slideshare.net]
[11] Limb apraxia is generally symmetrical and patients show difficulties imitating postures (ideomotor apraxia) and pantomiming patterns of limb movements (ideational apraxia). [11] Eyelid opening apraxia can occasionally be present, patients taking [annalsofian.org]
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain. 2004;127:759-67. Lock RJ, Tengah DP, Williams AJ, et al. [bcm.edu]
In addition, early pseudobulbar signs (nasal spastic dysarthria, robotic dysphonia and dysphagia), axial rigidity, mild pyramidal signs, blepharospasm, eyelid opening apraxia, ptosis is followed by symmetric parkinsonism without tremor. [neuroweb.us]
[…] history, including occupational, drug, and family history Evaluation for neurologic deficits characteristic of disorders other than Parkinson disease Neuroimaging when patients have atypical features (eg, early falls, early cognitive impairment, ideomotor apraxia [merckmanuals.com]
- Hand Tremor
The tremor typically begins in the dominant hand and progresses to involve the contralateral hand. [neurology.org]
These involve slowing of movements, shuffling gait, development of a hand tremor and reduction of facial expression. Patients with XDP do not have Parkinson's disease, which is not a genetic condition and is caused by a different mechanism. [massgeneral.org]
Upper limb tremor is most commonly psychogenic. Variable tremor frequency is consistent with a psychogenic cause. If patient is asked to tap with one hand and the other hand's tremor entrains with the tapping, suspect a psychogenic cause. [stanfordmedicine25.stanford.edu]
Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. [ghr.nlm.nih.gov]
However, case 2 in our study showed hand tremor and memory defects without signs of any other Parkinsonism, which was a rare presenting sign [28]. [translationalneurodegeneration.biomedcentral.com]
- Action Tremor
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, [orpha.net]
[…] 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]
Irregular myoclonic postural or action tremor of the hands or fingers Dysarthria- - Atypical quivering, irregular and severely hypophonic or slurring high pitched dysarthria, - tends to develop earlier and be more severe than in PD notable dysphagia [slideshare.net]
Patients commonly notice the tremor while performing actions such as writing or holding a cup. The tremor may improve with small amounts of alcohol and, as with all tremors, it gets worse with anxiety, illness, or tiredness. [ncbi.nlm.nih.gov]
[…] potential see brachycephaly action potential rapid, transient, all-or-none nerve impulse initiated at the axon hillock; electrical signal by which the brain receives, analyzes, and conveys information action tremor tremor that appears during movement [strokecenter.org]
Workup
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]
Treatment
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]
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]
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]
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]
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]
Epidemiology
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
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
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]