title: A distinct phenotype of distal myopathy in a large Finnish family.
abstract: OBJECTIVE
  The authors carried out clinical, histopathologic, immunocytochemical, electrophysiologic, and imaging investigations and molecular genetic analysis in seven patients with distal myopathy belonging to a Finnish family.
  
  
  RESULTS
  The disease showed autosomal dominant inheritance. Age at onset ranged from 32 to 45 years. The first symptoms for referral were clumsiness with the hands and frequent stumbling from a steppage gait. Muscle weakness was characterized by early involvement of the small muscles of the hands, gluteus medium, and both anterior and posterior muscle compartments of the legs. The disease progressed to involve other intrinsic muscles of the hands, as well as the forearm muscles, triceps and infraspinatus, and proximal lower limbs. Asymmetry of muscle involvement was common. EMG showed myopathic features, serum CK was normal or slightly elevated, and muscle biopsy showed many rimmed vacuoles and dystrophic changes. There was no evidence of linkage to Welander distal myopathy or tibial muscular dystrophy loci.
  
  
  CONCLUSIONS
  These patients may have a distinct distal myopathy. Genome-wide scan is undertaken in order to identify the disease locus.
authors.affiliation: Department of Neurology, Oulu University Hospital, Finland. ibrahim.mahjneh@vshp.fi
authors.forename: I
authors.initials: I
authors.lastname: Mahjneh
authors.forename: H
authors.initials: H
authors.lastname: Haravuori
authors.forename: A
authors.initials: A
authors.lastname: Paetau
authors.forename: L V B
authors.initials: LV
authors.lastname: Anderson
authors.forename: A
authors.initials: A
authors.lastname: Saarinen
authors.forename: B
authors.initials: B
authors.lastname: Udd
authors.forename: H
authors.initials: H
authors.lastname: Somer
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood; D018450:Disease Progression; D004568:Electrodiagnosis; D005190:Family; D005260:Female; D005387:Finland / Q000208:ethnology; D005799:Genes, Dominant; D008040:Genetic Linkage; D006225:Hand / Q000503:physiopathology; D006801:Humans; D007866:Leg / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014057:Tomography, X-Ray Computed
chemical_list: D003402:Creatine Kinase