title: Progressive myoclonic ataxia without ragged red fibres: Unverricht-Lundborg disease vs Ramsay Hunt syndrome.
abstract: We describe eight patients from three families presenting with myoclonus, ataxia, infrequent seizures and minimal intellectual impairment. All were Arabs from different parts of the Arabian peninsula. The new consensus on terminology, genetic and clinical definition of Baltic myoclonus, Ramsay Hunt syndrome and Unverricht-Lundborg disease suggests that our group are best categorised under the term of progressive myoclonic ataxia of the Unverricht-Lundborg type. Moreover, this report reinforces the existence of this syndrome outside Scandinavia.
authors.affiliation: Department of Neurology, Faculty of Medicine, Kuwait University.
authors.forename: R A
authors.initials: RA
authors.lastname: Shakir
authors.forename: R A
authors.initials: RA
authors.lastname: Khan
authors.forename: A G
authors.initials: AG
authors.lastname: al-Zuhair
mesh_terms: D000293:Adolescent; D000328:Adult; D003241:Consanguinity; D003937:Diagnosis, Differential; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007730:Kuwait; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology; D002527:Myoclonic Cerebellar Dyssynergia / Q000175:diagnosis / Q000235:genetics*; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*