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Generalized Epilepsy - Paroxysmal Dyskinesia Syndrome

GEPD


Presentation

  • It may present as paroxysmal dyskinesia, an entity known as Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life.[annalsofian.org]
  • Attacks may present with choreoathetotic movements or stiffening and cramps.[neupsykey.com]
  • This disorder should not be confused with Tourette syndrome, which commonly presents by seven years of age. Tardive tremors often present as involuntary rhythmical, wave-like, and persistent movements of the head, neck, limbs, or voice.[encyclopedia.com]
  • Interactions with industry are essential to bringing the researchers' discoveries to the public, but can present the potential for conflicts of interest related to their research activities.[my.clevelandclinic.org]
  • Acronym PNKD3 Synonyms Generalized epilepsy and paroxysmal dyskinesia GEPD Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
Spastic Paraplegia
  • Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases.[books.google.com]
  • Spastic paraplegia panel complete ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1,... Spastic paraplegia panel complete ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1,... Spastic paraplegia panel, autosomal dominant ALDH18A1, ATL1, ATP2B4, BICD2, BSCL2,...[centogene.com]
  • paraplegia between attacks DYT-10 16p11.2-q12.1 Paroxysmal Kinesogenic Dyskinesias Autosomal Dominant Attacks of dystonia brought on by sudden movements EKD1, "paroxysmal kinesigenic choreoathetosis", PKC DYT-11 SGCE 7q21.3 Myoclonus Dystonia Autosomal[cmdg.org]
  • paraplegia #601042 PKD/PED, onset in childhood AD SLC2A1 1p34.2 DYT9, part of GLUT1-DS Spastic paraplegia Cognitive impairment Alternating hemiplegia of childhood (AHC) #614820 Onset before age 18 mo AD ATP1A3 19q13.2 Phenotypic spectrum with RDP (DYT12[neupsykey.com]

Treatment

  • […] of the most common and debilitating neurological disorders, and paroxysmal dyskinesia is another heterogeneous group of neurological disorders characterized by sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment[genome.jp]
  • Seizures are often remained refractory despite the treatment with a number of antiepileptic medications. Valproate and benzodiazepines are relatively contraindicated for the treatment of seizures in this syndrome.[content.iospress.com]
  • […] phases of the study (baseline, treatment and withdrawal) of 2 months each.[jnnp.bmj.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.[dystoniacanada.org]
  • Medication treatments The following are common treatments for dystonia: Levodopa People diagnosed with dopa-responsive dystonia will be prescribed levodopa treatment. This medication raises levels of dopamine - a neurotransmitter.[medicalnewstoday.com]

Prognosis

  • PMID: 12366739 Prognosis Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA J Neurol 2014 Mar;261(3):589-99. Epub 2014 Jan 12 doi: 10.1007/s00415-014-7240-z.[ncbi.nlm.nih.gov]
  • The prognosis of PD is extremely difficult to determine because the disease varies from person to person. The attacks for PKD can be reduced and managed with proper anticonvulsants, but there is no particular end in sight for any of the PD diseases.[en.wikipedia.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]
  • 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]
  • Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis. Brain Dev. 32:445-53,2010. Hirano Y, Oguni H, Funatsuka M, Imai K, Osawa M.[twmu.ac.jp]

Etiology

  • Etiology Lebon S, Suarez P, Alija S, Korff CM, Fluss J, Mercati D, Datta AN, Poloni C, Marcoz JP, Campos-Xavier AB, Bonafé L, Roulet-Perez E Eur J Paediatr Neurol 2015 Mar;19(2):170-5. Epub 2014 Dec 11 doi: 10.1016/j.ejpn.2014.11.009.[ncbi.nlm.nih.gov]
  • . • Paroxysmal dyskinesias may be sporadic, genetic, or caused by metabolic or structural etiologies. • Another common cause of paroxysmal dyskinesias is psychogenic movement disorders. • Paroxysmal kinesigenic dyskinesia typically responds well to antiepileptic[medlink.com]
  • Table 2 Dystonic disorders where etiology-specific treatment is available The quintessential “don’t-miss” diagnosis is DRD in which levodopa serves as an etiology-specific therapy.[clinicalmovementdisorders.biomedcentral.com]
  • Partial response to therapy in GER should prompt search for an underlying secondary etiology.[annalsofian.org]
  • The etiology of non-epileptic seizures is heterogeneous, with different predisposing, precipitating and promoting factors in different affected individuals.[epilepsydiagnosis.org]

Epidemiology

  • Upon completing her epilepsy fellowship, she received an American Academy of Neurology clinical research training fellowship award to begin her own study of familial epilepsy and to pursue training in genetic epidemiology at Case Western Reserve University[my.clevelandclinic.org]
  • Environmental Science, Cleveland State University, Cleveland, 44115, Ohio, USA Wei Du & Qing K Wang Department of Neurology, The Cleveland Clinic Foundation, Cleveland, 44195, Ohio, USA Jocelyn F Bautista , Prakash Kotagal & Hans O Lüders Department of Epidemiology[nature.com]
  • Abuse and dependence potential for the non-benzodiazepine hypnotics zolpidem and zopiclone: a review of case reports and epidemiological data. Addiction. 2003;98:1371–8. PubMed Google Scholar Daniele A, Moro E, Bentivoglio AR.[clinicalmovementdisorders.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • This review summarizes clinical symptoms of the PDs, imaging findings, therapeutic options, and the pathophysiologic background.[link.springer.com]
  • Hypocretin/orexin and sleep: implications for the pathophysiology and diagnosis of narcolepsy. Curr Opin Neurol 2002, 15 : 739 –745. Paolicchi JM. The spectrum of nonepileptic events in children. Epilepsia 2002, 43 (Suppl. 3): 60 –64.[cambridge.org]
  • The current poor understanding of the pathophysiology and biochemistry of PD often makes establishing a satisfactory treatment plan difficult.[dystoniacanada.org]
  • The role of GABA in dystonia pathophysiology remains unclear.[clinicalmovementdisorders.biomedcentral.com]
  • It is considered a migraine variant as there is often a family history of migraine headache, though the pathophysiology is not well understood. Usually no trigger to a particular episode can be defined.[epilepsydiagnosis.org]

Prevention

  • It prevents specific neurotransmitters from reaching the affected muscles, preventing spasms. Botulinum toxin is administered by injection. One dose usually lasts about 3 months. There may be some initial (temporary) pain at the injection site.[medicalnewstoday.com]
  • PED [ edit ] PED patients usually avoid prolonged, continuous exertion to prevent occurrence of attacks. Use of anticonvulsants such as benzodiazepines show little to no success in PED patients.[en.wikipedia.org]
  • Some patients learn to prevent the episode by slowing down their movement. Attacks recur frequently with most patients having up to 20 attacks daily, up to 100 episodes per day in puberty, and marked decrease in frequency after age 20 years.[neupsykey.com]
  • No treatment was given in patient 3, as PED attacks were not particularly disabling and could be prevented by avoiding prolonged exercise.[onlinelibrary.wiley.com]
  • The retained awareness and history of triggers should prevent misdiagnosis as focal seizures.[epilepsydiagnosis.org]

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