title: Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.
abstract: OBJECTIVE
  To characterise the natural history of Ullrich congenital muscular dystrophy (UCMD).
  
  
  METHODS
  Questionnaire-based nationwide survey to all 5442 certified paediatric and adult neurologists in Japan was conducted from October 2010 to February 2011. We enrolled the 33 patients (age at assessment, 11 ± 6.6 years) who were reported to have collagen VI deficiency on immunohistochemistry in muscle biopsies. We analysed the development, clinical manifestations, Cobb angle and %vital capacity (%VC) in spirogram.
  
  
  RESULTS
  Cobb angle over 30° was noted at age 9.9 ± 5.3 years (n=17). The maximum progression rate was 16.2 ± 10°/year (n=13). %VC was decreased exponentially with age, resulting in severe respiratory dysfunction before pubescence. Scoliosis surgery was performed in 3 patients at ages 5 years, 9 years and 10 years. Postoperative %VC was relatively well maintained in the youngest patient. Non-invasive ventilation was initiated at age 11.2 ± 3.6 years (n=13). Twenty-five (81%) of 31 patients walked independently by age 1.7 ± 0.5 years but lost this ability by age 8.8 ± 2.9 years (n=11). Six patients never walked independently.
  
  
  CONCLUSIONS
  The natural history of scoliosis, respiratory function and walking ability in UCMD patients were characterised. Although the age of onset varied, scoliosis, as well as restrictive respiratory dysfunction, progressed rapidly within years, once they appeared.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yonekawa
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Mari
authors.initials: M
authors.lastname: Okada
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000235:genetics; D004247:DNA / Q000235:genetics; D018450:Disease Progression; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007564:Japan / Q000453:epidemiology; D053208:Kaplan-Meier Estimate; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D009333:Neck; D011187:Posture; D012140:Respiratory Tract Diseases / Q000235:genetics / Q000473:pathology*; D012598:Sclerosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D012600:Scoliosis / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D016019:Survival Analysis; D016896:Treatment Outcome; D014797:Vital Capacity; D055815:Young Adult
chemical_list: C481130:COL16A1 protein, human; D003094:Collagen; D004247:DNA
keywords: CLINICAL NEUROLOGY; MUSCULAR DYSTROPHY; NEUROMUSCULAR