We describe a large series of patients presenting with PED. [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]

• Global Developmental Delay

  Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, et al. (2010) Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 47: 332–341. [journals.plos.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]

In summary, here we show that PED can be associated with a number of different disorders, highlighting the need for a rational diagnostic workup. [ncbi.nlm.nih.gov]

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]

[…] scp=64549123014&partnerID=8YFLogxK U2 - 10.1007/s11940-009-0020-x DO - 10.1007/s11940-009-0020-x M3 - Review article VL - 11 SP - 170 EP - 178 JO - Current Treatment Options in Neurology T2 - Current Treatment Options in Neurology JF - Current Treatment [mayoclinic.pure.elsevier.com]

An inaccurate psychiatric diagnosis not only causes unnecessary suffering to the person affected by PD, but it may also preclude appropriate treatment options. Treatment There is no cure for dystonia or PD at this time, but treatments are available. [dystonia-foundation.org]

[…] 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]

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]

Prompt recognition of the underlying etiology is crucial for subsequent management, prognosis, and genetic counseling of these patients. The algorithm presented here might serve this aim. [ncbi.nlm.nih.gov]

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]

However, the underlying etiology of PED is quite heterogeneous. We describe a large series of patients presenting with PED. [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]

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]

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]

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]

[…] 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]

Recent genetic discoveries may aid us in elucidating the pathophysiology of these disorders. [mayoclinic.pure.elsevier.com]

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]

Experts stumped as to what to do in kids both to prevent and treat it. [medscape.com]

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]

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. [doi.org]