title: Clinical, electrophysiologic and pathologic findings in 10 patients with myotonic dystrophy 2.
abstract: BACKGROUND
  Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystem disorder caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3.
  
  
  OBJECTIVE
  To describe the clinical, electrophysiologic and pathologic findings in patients with myotonic dystrophy 2.
  
  
  METHODS
  We evaluated 10 patients genetically, clinically and electrophysiologically during the years 2007 to 2008.
  
  
  RESULTS
  All patients were of Jewish European ancestry. Among affected individuals, eight patients had symptoms of proximal muscle weakness, two had muscle pain, and two exhibited myotonia. On physical examination six patients had severe weakness of hip flexor muscles. Seven individuals underwent cataract surgery, and cardiac involvement was seen in one case. On the initial electromyographic (EMG) examination five patients demonstrated myotonic discharges; repeated studies showed these discharges in nine cases. Six muscle biopsies showed non-specific pathological changes. Seven patients had an affected first-degree relative with either a diagnosed or an undiagnosed muscular disorder consistent with an autosomal dominant trait.
  
  
  CONCLUSIONS
  DM2 may often present with proximal muscle weakness without myotonia. EMG may initially fail to show myotonic discharges, but these discharges may eventually show in most cases on repeated EMG. Thus, DM2 may be underdiagnosed and should be included in the differential diagnosis of adult patients of Jewish European ancestry presenting with proximal lower limb weakness.
authors.affiliation: Department of Neurology, Wolfson Medical Center, Holon, Israel. ronda@post.tau.ac.il
authors.forename: Ron
authors.initials: R
authors.lastname: Dabby
authors.forename: Menachem
authors.initials: M
authors.lastname: Sadeh
authors.forename: Oscar
authors.initials: O
authors.lastname: Herman
authors.forename: Lior
authors.initials: L
authors.lastname: Leibou
authors.forename: Eyal
authors.initials: E
authors.lastname: Kremer
authors.forename: Shimonov
authors.initials: S
authors.lastname: Mordechai
authors.forename: Nathan
authors.initials: N
authors.lastname: Watemberg
authors.forename: Jacob
authors.initials: J
authors.lastname: Frand
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001706:Biopsy; D004576:Electromyography / Q000379:methods*; D005060:Europe / Q000208:ethnology; D005260:Female; D006801:Humans; D040582:Inheritance Patterns; D007557:Israel / Q000453:epidemiology; D007585:Jews; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D059352:Musculoskeletal Pain / Q000503:physiopathology*; D009222:Myotonia / Q000473:pathology / Q000503:physiopathology*; D020967:Myotonic Disorders / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics / Q000503:physiopathology; D009223:Myotonic Dystrophy; D010375:Pedigree; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C433227:CNBP protein, human; D016601:RNA-Binding Proteins