Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
권호 표지

A Case of Sporadic Ullrich Congenital Muscular Dystrophy Caused by a COL6A1 Mutation

COL6A1 돌연변이에 의해 발생한 산발성 Ullrich 병 1례

  • Park, Young-Eun (Department of Neurology, Pusan National University Hospital) ;
  • Kim, Tae-Hyoung (Department of Neurology, Pusan National University Hospital) ;
  • Kim, Hyang-Suk (Medical Research Institute, Pusan National University Hospital) ;
  • Kim, Dae-Seong (Medical Research Institute, Pusan National University Hospital)
  • 박영은 (부산대학교병원 신경과) ;
  • 김태형 (부산대학교병원 신경과) ;
  • 김향숙 (부산대학교병원 의학연구소) ;
  • 김대성 (부산대학교병원 의학연구소)
  • Received : 2010.02.12
  • Accepted : 2010.04.20
  • Published : 2010.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness, distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is caused by collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1, COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whom the diagnosis was confirmed by immunohistochemistry and molecular genetic study.

Keywords

References

  1. Ullrich O. kongenitale, atonish-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskularen Systems. Z Ges Neurol Psychait 1930;126:171-201. https://doi.org/10.1007/BF02864097
  2. Nonaka I, Une Y, Ishihara T, Miyoshino S, Nakashima T, Sugita H. A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy). Neuropediatrics 1981;12:197-208. https://doi.org/10.1055/s-2008-1059651
  3. Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001;98:7516-7521. https://doi.org/10.1073/pnas.121027598
  4. Lampe AK, Dunn EM, Niederhausern AC, Hamil C, Aoyagi A, Laval SH, et al. Automated genomic sequence analysis of the three collagen genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet 2005; 42:108-120. https://doi.org/10.1136/jmg.2004.023754
  5. Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 2007;69:1035-1042. https://doi.org/10.1212/01.wnl.0000271387.10404.4e
  6. Nadeau A, Kinali M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, et al. Natural history of Ullrich congenital muscular dystrophy. Neurology 2009;73:25-31. https://doi.org/10.1212/WNL.0b013e3181aae851
  7. Lampe AK, Bushby KM. Collagen VI related muscle disorders. J Med Genet 2005;42:673-685. https://doi.org/10.1136/jmg.2002.002311
  8. Seo BC, Choi YC, Kim SM, Choi BO, Shim DS, Lee DH, et al. A family of Bethlem myopathy. J Korean Neurol Assoc 2006; 24:614-617.
  9. Ishikawa H, Sugie K, Murayama K, Awaya A, Suzuki Y, Noguchi S, et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004;62:620-623. https://doi.org/10.1212/01.WNL.0000113023.84421.00