title: Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study.
abstract: BACKGROUND
  Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multiorgan disorder showing clinical and genetic heterogeneity. The key features of MSS include cerebellar ataxia, early bilateral cataracts, delayed motor development, and varying degrees of mental retardation. Patients with a subtype of MSS with myoglobinuria and neuropathy have been linked to chromosome 18qter, and recently a locus for classical MSS has been localized on chromosome 5q31.
  
  
  OBJECTIVE
  To determine the importance of myopathy in this disorder apart from the CNS based disability and to establish the pattern of muscle involvement and degree of its severity.
  
  
  METHODS
  Muscle computed tomography (CT) investigations were carried out in nine Finnish MSS patients homozygous for markers around the MSS locus on chromosome 5q31.
  
  
  RESULTS
  Patients with severe clinical disability showed severe and generalized muscle degeneration. Muscle CT findings in patients with relatively severe clinical picture were characterized by severe involvement of the posterior thoracic and pelvic muscles, and almost all thigh muscles. In the legs the peronei and posterior compartment muscles were severely degenerated. The group of patients with moderate severity of disease showed the same pattern of involved muscle, albeit with lower degree of muscle degeneration.
  
  
  CONCLUSIONS
  Patients with MSS linked to chromosome 5q31 have a severe progressive myopathy, the extent of which may remain largely unrecognized because of the CNS involvement.
authors.affiliation: Dept. of Neurology, Pietasaari Hospital PL 23, 68601 Pietasaari, Finland. ibrahim.mahjneh@mhso.fi
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Mahjneh
authors.forename: Anna-Kaisa
authors.initials: AK
authors.lastname: Anttonen
authors.forename: Mirja
authors.initials: M
authors.lastname: Somer
authors.forename: Anders
authors.initials: A
authors.lastname: Paetau
authors.forename: Anna-Elina
authors.initials: AE
authors.lastname: Lehesjoki
authors.forename: Hannu
authors.initials: H
authors.lastname: Somer
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000150:complications / Q000473:pathology*; D012720:Severity of Illness Index; D013132:Spinocerebellar Degenerations / Q000150:complications / Q000473:pathology*; D015898:Tomography Scanners, X-Ray Computed