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000164476 0247_ $$2ISSN$$a1873-5126
000164476 037__ $$aDZNE-2022-01028
000164476 041__ $$aEnglish
000164476 082__ $$a610
000164476 1001_ $$aGanos, Christos$$b0
000164476 245__ $$aDystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?
000164476 260__ $$aAmsterdam [u.a.]$$bElsevier Science$$c2014
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000164476 520__ $$aDystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus.Detailed clinical data were collected over two decades in the female (index) patient and for nine years in her similarly affected son. Sanger sequencing followed by exome sequencing was performed.Both patients had leg onset generalized dystonia with gradual rostral spread including prominent facial and oro-mandibular involvement. The index patient was anarthric, her son aphonic. Both had saccadic slowing, more marked for the horizontal plane, and subclinical epileptic activity. The index patient also had photic myoclonus and a combined axonal and demyelinating neuropathy. Known genetic causes of similar syndromes were not identified.These cases with caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement, severe speech impairment, marked slowing of horizontal saccades, and photic myoclonus likely represent a novel entity.
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000164476 650_7 $$2Other$$aAphonia
000164476 650_7 $$2Other$$aDystonia
000164476 650_7 $$2Other$$aEpilepsy
000164476 650_7 $$2Other$$aMyoclonus
000164476 650_7 $$2Other$$aSlow horizontal saccades
000164476 650_2 $$2MeSH$$aAdult
000164476 650_2 $$2MeSH$$aAphonia: complications
000164476 650_2 $$2MeSH$$aAphonia: diagnosis
000164476 650_2 $$2MeSH$$aDystonia: complications
000164476 650_2 $$2MeSH$$aDystonia: diagnosis
000164476 650_2 $$2MeSH$$aEpilepsy: complications
000164476 650_2 $$2MeSH$$aEpilepsy: diagnosis
000164476 650_2 $$2MeSH$$aFemale
000164476 650_2 $$2MeSH$$aHumans
000164476 650_2 $$2MeSH$$aMale
000164476 650_2 $$2MeSH$$aMiddle Aged
000164476 650_2 $$2MeSH$$aMyoclonus: complications
000164476 650_2 $$2MeSH$$aMyoclonus: diagnosis
000164476 650_2 $$2MeSH$$aOcular Motility Disorders: complications
000164476 650_2 $$2MeSH$$aOcular Motility Disorders: diagnosis
000164476 650_2 $$2MeSH$$aPedigree
000164476 650_2 $$2MeSH$$aSaccades: physiology
000164476 650_2 $$2MeSH$$aSyndrome
000164476 7001_ $$0P:(DE-2719)9000027$$aBiskup, Saskia$$b1$$udzne
000164476 7001_ $$aKrüger, Stefanie$$b2
000164476 7001_ $$aMeyer-Osores, Aracelli$$b3
000164476 7001_ $$aHodecker, Sibylle$$b4
000164476 7001_ $$aHagel, Christian$$b5
000164476 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b6$$udzne
000164476 7001_ $$aBhatia, Kailash P$$b7
000164476 7001_ $$aMünchau, Alexander$$b8
000164476 773__ $$0PERI:(DE-600)2027635-7$$a10.1016/j.parkreldis.2013.11.011$$gVol. 20, no. 3, p. 328 - 331$$n3$$p328 - 331$$tParkinsonism & related disorders$$v20$$x1353-8020$$y2014
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