title: Familial adult-onset muscular dystrophy with leukoencephalopathy.
abstract: We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings. We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized autosomal recessive syndrome.
authors.affiliation: Institute of Neurology, University Hospital, Nijmegen, The Netherlands.
authors.forename: B G
authors.initials: BG
authors.lastname: van Engelen
authors.forename: Q H
authors.initials: QH
authors.lastname: Leyten
authors.forename: P L
authors.initials: PL
authors.lastname: Bernsen
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: F
authors.initials: F
authors.lastname: Barkhof
authors.forename: E M
authors.initials: EM
authors.lastname: Joosten
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: H J
authors.initials: HJ
authors.lastname: ter Laak
authors.forename: M B
authors.initials: MB
authors.lastname: Ruijs
authors.forename: J R
authors.initials: JR
authors.lastname: Cruysberg
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D000328:Adult; D004796:Clinical Enzyme Tests; D003402:Creatine Kinase / Q000097:blood; D004569:Electroencephalography; D004576:Electromyography; D005190:Family; D005260:Female; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000150:complications / Q000235:genetics*; D008297:Male; D009132:Muscles / Q000378:metabolism; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010375:Pedigree
chemical_list: D000255:Adenosine Triphosphate; D003402:Creatine Kinase