title: Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.
abstract: We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of M-D and require revision of the current diagnostic criteria. Five of 14 asymptomatic mutation carriers who inherited the mutation from their mother showed minimal axial dystonia, arguing against a maternal imprinting mechanism.
authors.affiliation: Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
authors.forename: E M J
authors.initials: EM
authors.lastname: Foncke
authors.forename: M C F
authors.initials: MC
authors.lastname: Gerrits
authors.forename: F
authors.initials: F
authors.lastname: van Ruissen
authors.forename: F
authors.initials: F
authors.lastname: Baas
authors.forename: K
authors.initials: K
authors.lastname: Hedrich
authors.forename: C C
authors.initials: CC
authors.lastname: Tijssen
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: M A J
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000369:Aged, 80 and over; D002648:Child; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D005121:Extremities / Q000294:innervation / Q000503:physiopathology; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000294:innervation / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009207:Myoclonus / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D009426:Netherlands; D010375:Pedigree; D013577:Syndrome