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]

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]

We describe the case of a young female patient who was admitted for diagnostic workup: epileptic seizures versus psychogenic movement disorders. [e-jmd.org]

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]

Continuous stereotypy is characteristic of another type of dyskinesia called tardive dyskinesia, which results from treatment with neuroleptic and antipsychotic medications. [encyclopedia.com]

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 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]

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]

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]

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]