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Paroxysmal Exertion-Induced Dyskinesia

PED


Presentation

  • We present 2 cases where PED was the presenting feature of young-onset idiopathic Parkinson's disease (PD), preceding the onset of parkinsonian symptoms by 1.5 and 5 years, respectively.[ncbi.nlm.nih.gov]
  • We present 2 cases where PED was the presenting feature of young‐onset idiopathic Parkinson's disease (PD), preceding the onset of parkinsonian symptoms by 1.5 and 5 years, respectively.[doi.org]
  • Although its features are unique, this syndrome presents striking analogies with the autosomal dominant infantile convulsions and paroxysmal coreoathetosis (ICCA) syndrome, linked to a 10 cM region between D16S401 and D16S517, which entirely includes[ncbi.nlm.nih.gov]
  • We describe a novel dominant disease in a three-generation family with four affected individuals presenting with acanthocytosis, paroxysmal exertion-induced dyskinesias and epilepsy.[thieme-connect.com]
  • This family presented with the classic phenotype of PED and is not linked to the PNKD, FHM, or ICCA loci. A new gene, possibly coding for an ion channel, is likely to be the underlying cause of the disease.[ncbi.nlm.nih.gov]
Kayser-Fleischer Ring
  • There was no Kayser-Fleischer ring. CT scan of the brain and electroencephalogram did not show any abnormality. Carbamazepine even upto 800 mg daily, did not produce any benefit.[neurologyindia.com]
Unable to Walk
  • His feet and legs turn inwards and he becomes unable to walk. He loses control over his legs and has to sit down to prevent falling.[jnnp.bmj.com]
Atonic Seizures
  • The nine-year-old son is little mentally retarded and suffers from mild permanent motor problems and focal epilepsy with myoclonic and atonic seizures occurring as status epilepticus in fasting state responding to ketogenic diet.[thieme-connect.com]
  • Non-epileptic head drops Non-epileptic head drops can occur in infants and may mimic epileptic spasms or atonic seizures.[epilepsydiagnosis.org]
Foot Drop
  • Lang, Dystonic Pseudo Foot Drop, Movement Disorders Clinical Practice, 2, 3, (295-298), (2015). Knut Brockmann and Hendrik Rosewich, Genetics of Paroxysmal Dyskinesia, Movement Disorder Genetics, 10.1007/978-3-319-17223-1_10, (191-211), (2015).[doi.org]
Action Tremor
  • tremor An important gene associated with Paroxysmal Exertion-Induced Dyskinesia is SLC2A1 (Solute Carrier Family 2 Member 1).[malacards.org]
Slurred Speech
  • What this means is they may not be able to speak at all, or they may have slurred speech, or difficult accessing and articulating sounds, words and sentences. They might also experience cognitive and learning delays and disabilities.[disabled-world.com]

Workup

  • We describe the case of a young female patient who was admitted for diagnostic workup: epileptic seizures versus psychogenic movement disorders.[e-jmd.org]
Acanthocytes
  • Affected individuals presented with decreased CSF glucose, moderate hemolytic anemia and increased percentage of acanthocytes. Erythrocytes had a four-fold increased intracellular Na and a decreased K concentration.[thieme-connect.com]
Burst Suppression
  • May become intermittent and resemble burst-suppression pattern.[quizlet.com]

Treatment

  • Management and treatment There is no specific cure or treatment but avoiding precipitating events such as prolonged physical exercise may largely improve the symptoms.[orpha.net]
  • Sethi, Paroxysmal dyskinesias, Current Treatment Options in Neurology, 10.1007/s11940-009-0020-x, 11, 3, (170-178), (2009).[doi.org]
  • Singer, Mink, Gilbert, and Jankovic, fill the gap in the market by offering the only comprehensive text devoted solely to the diagnoses and treatment of all pediatric movement disorders.[books.google.com]
  • Iris Unterberger and Eugen Trinka, Review: Diagnosis and treatment of paroxysmal dyskinesias revisited, Therapeutic Advances in Neurological Disorders, 1, 2, (67), (2008).[doi.org]

Prognosis

  • Huicong Kang, Qi Hu, Xiaoyan Liu, Feng Xu, Lin Chen and Suiqiang Zhu, Clinical characteristics of paroxysmal kinesigenic choreoathetosis: Diagnosis, treatment and prognosis, Journal of Huazhong University of Science and Technology [Medical Sciences],[doi.org]
  • Typically, patients receive antiepileptic medications, and improvement of symptoms is usually associated with a good prognosis. If symptoms do not improve with antiepileptic medication(s), the prognosis is not favorable.[encyclopedia.com]
  • […] alpha activity, unresponsive to external stimuli Causes: 2-3 days after cardiopulm arrest poor prognosis Brainstem strokes (can see posterior-dominant alpha pattern) Drug overdose Bilateral thalamic infarcts Prognosis depends on etiology Beta activity[quizlet.com]
  • The diagnosis of PKD is based on the clinical features and the correct diagnosis has implications for treatment and prognosis. However, PKD is often misdiagnosed clinically as epilepsy or psychogenic illness.[jmedicalcasereports.biomedcentral.com]
  • The events appear very frightening for carers but have a good prognosis. When reflex anoxic seizures are very frequent, atropine or cardiac pacing may be considered.[epilepsydiagnosis.org]

Etiology

  • Etiology The pathophysiology of PED is still unknown but some familial cases were found to be associated with mutations in the SLC2A1 (solute carrier family 2 (facilitated glucose transporter), member 1) gene (1p34.2).[orpha.net]
  • Valerie B Thompson, H A Jinnah and Ellen J Hess, Convergent mechanisms in etiologically-diverse dystonias, Expert Opinion on Therapeutic Targets, 10.1517/14728222.2011.641533, 15, 12, (1387-1403), (2011). S.D.[doi.org]
  • Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med.[books.google.com]
  • Valerie B Thompson, H A Jinnah and Ellen J Hess, Convergent mechanisms in etiologically-diverse dystonias, Expert Opinion on Therapeutic Targets, 10.1517/14728222.2011.641533, 15, 12, (1387-1403), (2011). Young H.[doi.org]

Epidemiology

  • Summary Epidemiology The prevalence is unknown but 20 sporadic cases and 9 families have been described to date. Clinical description The age of onset is usually in childhood, but may range from 1 to 30 years.[orpha.net]
  • Epidemiology The prevalence is unknown but 20 sporadic cases and 9 families have been described to date. Clinical description The age of onset is usually in childhood, but may range from 1 to 30 years.[rarediseases.info.nih.gov]
  • Anette Schrag and Jonathan M Schott, Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism, The Lancet Neurology, 10.1016/S1474-4422(06)70411-2, 5, 4, (355-363), (2006). Laura J.C.[doi.org]
  • Epidemiology of primary dystonia. Lancet Neurol . 2004 Nov. 3(11):673-8. [Medline] . Epidemiologic Study of Dystonia in Europe (ESDE) Collaborative Group. Sex-related influences on the frequency and age of onset of primary dystonia.[emedicine.staging.medscape.com]
  • […] for SLC2A1 Gene infantile seizures,microcephaly,developmental delay and hypoglycorrhachia,caused by haploinsufficiency of the blood-brain barrier hexose carrier Relevant External Links for SLC2A1 Genetic Association Database (GAD) SLC2A1 Human Genome Epidemiology[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • However, its pathophysiological and anatomical basis are poorly understood.[ncbi.nlm.nih.gov]
  • Etiology The pathophysiology of PED is still unknown but some familial cases were found to be associated with mutations in the SLC2A1 (solute carrier family 2 (facilitated glucose transporter), member 1) gene (1p34.2).[orpha.net]
  • Joseph Jankovic and Raja Mehanna, Pathophysiology and clinical assessment, Handbook of Parkinson’s Disease, 10.3109/9781841849096.004, (61-92), (2013).[doi.org]

Prevention

  • Moreover, a ketogenic diet for patients may prevent attacks and may lead to improvement of developmental delay in affected children. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Moreover, a ketogenic diet for patients may prevent attacks and may lead to improvement of developmental delay in affected children. Last updated: 11/27/2013[rarediseases.info.nih.gov]
  • Moreover, a ketogenic diet for patients may prevent attacks and may lead to improvement of developmental delay in affected children.Visit the Orphanet disease page for more resources.[malacards.org]
  • Experts stumped as to what to do in kids both to prevent and treat it.[medscape.com]
  • Treatment with acetazolamide did not prevent attacks of PED. Patient II:7 This 41 year old maternal uncle of the index case developed symptoms at the age of 15.[jnnp.bmj.com]

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