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]

• Hodgkin Lymphoma

  Disease 58 412 470 Kidney Cancer 97 284 381 Leukemia 211 685 896 Liver Cancer 87 153 240 Lung Cancer 525 1462 1987 Lung Carcinoid Tumor 10 46 56 Lymphoma of the Skin 3 17 20 Malignant Mesothelioma 0 4 4 Multiple Myeloma 87 366 453 Non-Hodgkin Lymphoma [rarepatientvoice.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]

• Night Blindness

  blindness, type 1A CACNA1FCongenital stationary night blindness, type 2A CACNA1FCongenital stationary night blindness, type 2A, severe HDAC8Cornelia de Lange syndrome 5 L1CAMCorpus callosum, partial agenesis of, X-linked EFNB1Craniofrontonasal dysplasia [invictagenetics.com]

• Torticollis

  Benign Essential Blepharospasm Research Foundation (BEBRF), Texas USA National Spasmodic Dysphonia Association, Chicago USA National Spasmodic Torticollis Association, California USA Spasmodic Torticollis/Dystonia Inc (WI, USA) Bachmann-Strauss Dystonia [brainfoundation.org.au]

  Involuntary movements can be transiently suppressed by a contact stimulus, such as placing a hand on the ipsilateral or contralateral side of the face or neck of a patient with spasmodic torticollis. [emedicine.medscape.com]

  Dystonia Focal, multifocal, segmental or generalized dystonia Idiopathic, genetic, and secondary dystonia Craniofacial dystonia (including blepharospasm, jaw dystonia, tongue dystonia, Meige syndrome, and spasmodic dysphonia) Cervical dystonia or torticollis [movementdisorders.us]

  Neoplasm Retrocollis Abnormality of eye movement Abnormality of the eye Limb pain Facial grimacing Laryngeal dystonia Stroke Generalized dystonia Visual impairment Limb dystonia Language impairment Impaired vibratory sensation Dysphonia Ischemic stroke Torticollis [mendelian.co]

  At age forty-one Mr Infante’s symptoms worsened and he developed a resting tremor, dystonic posturing of his upper left limb, as well as torticollis; typical of the progression of the disease process. [exeley.com]

• 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]

• Muscle Spasticity

  SNOMED-CT } 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 [phinvads.cdc.gov]

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

  These signals send the message to the brain of overstretching of the muscles, forcing the response to contact the muscles, leading to spasticity. [news-medical.net]

  The ongoing muscle spasticity associated with this condition could make the results of surgical intervention less predictable. [researchgate.net]

  Spasticity primarily affects muscles of leg extension (quadriceps), knee flexion (hamstrings), hip adduction (bringing the knees together, thigh adductor muscles), and muscles that extend the feet (gastrocnemius-soleus [Achilles tendon]). [rarediseases.org]

• Aggressive Behavior

  Dysgraphia Disinhibition Astrocytosis Frontotemporal dementia Loss of speech Apathy Hypertonia Mutism Stereotypy Memory impairment Urinary incontinence Confusion Aggressive behavior Facial myokymia Myokymia Limb hypertonia Delayed gross motor development [mendelian.co]

• 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]

• Tremor

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

  Additionally, this patient's tremor was typical although nonspecific for FXTAS. The kinetic tremor and writing impairment may mimic that of essential tremor and writing tremor, respectively. [neurology.org]

  […] 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]

  Essential tremor is a disorder in which tremor occurs in the outstretched arms or when performing movement with the arms. The head, voice and legs may also be involved with tremor. [rush.edu]

• 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]

• Dysarthria

  Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. [mendelian.co]

  - Atypical quivering, irregular and severely hypophonic or slurring high pitched dysarthria, - tends to develop earlier and be more severe than in PD  notable dysphagia 47. [slideshare.net]

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

  Dysarthria, sialorrhea and personality change, gait abnormalities and arm tremor account for the majority of presenting symptoms and signs. [neuroweb.us]

  The common clinical problems in SCA are gait ataxia, eye movement abnormalities (nystagmus or jerkiness and double vision), and dysarthria (speech difficulty). [bcm.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]

• Abnormal Gait

  The father, brother, and uncle were both asymptomatic while the grandfather was wheelchairbound and the mother had abnormal gait. [omicsonline.org]

  See the Abnormal Gaits Page for description and demonstration of the Choriform gate. Other Choreas Sydenham's chorea (aka Saint Vitus Dance) is one of the major diagostic criteria for Rheumatic fever seen in prior Group A Streptococcal infection. [stanfordmedicine25.stanford.edu]

  Many mutated genes are linked to abnormal lipid metabolism. [en.wikipedia.org]

  56.  Clinical features Motor Limb clumsiness (asymmetric) Bradykinesia/Akinesia (asymmetric) Rigidity (asymmetric) Tremor (action/postural) Myoclonus Limb dystonia (asymmetric) Blepharospasm Choreoathetoid movements Speech abnormalities Gait disorder [slideshare.net]

  At the extremes are asymptomatic patients with pyramidal signs in the lower limbs with a normal or only slightly abnormal gait and a few patients who are chairbound or bedridden. 71 94 There is marked variability in the age at onset of symptoms in chromosome [jnnp.bmj.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]

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]