Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 84, Issue 9, 2013, Pages 982-988

  Yonekawa, Takahiro ^a,b,c   Komaki, Hirofumi ^b   Okada, Mari ^a   Hayashi, Yukiko K ^a   Nonaka, Ikuya ^a,b   Sugai, Kenji ^b   Sasaki, Masayuki ^b   Nishino, Ichizo ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c UNIVERSITY OF YAMANASHI   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AGE; ARTICLE; CHILD; CLINICAL ARTICLE; COBB ANGLE; FEMALE; HUMAN; HUMAN TISSUE; INFANT; JAPAN; MALE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NONINVASIVE VENTILATION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUESTIONNAIRE; RESPIRATORY FAILURE; SCHOOL CHILD; SCOLIOSIS; SPINE SURGERY; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; VITAL CAPACITY; WALKING;

EID: 84881551289     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-304710     Document Type: Article

References (19)

1. Okada M, Kawahara G, Noguchi S, et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 2007;69:1035-42. (Pubitemid 47366058)
2. Ullrich O. Kongenitale atonisch-skelerotische Muskeldystrophie ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskularen systems. Z Ges Neurol Psychiat 1930;126:171-201.
3. Nonaka I, Une Y, Ishihara T, et al. A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy). Neuropediatrics 1981;12:197-208. (Pubitemid 11046985)
4. Mercuri E, Yuva Y, Brown SC, et al. Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Neurology 2002;58:1354-9. (Pubitemid 34507161)
5. Norwood FL, Harling C, Chinnery PF, et al. Prevalence of genetic muscle disease in Northern England: in depth analysis of a muscle clinic population. Brain 2009;132:3175-86.
6. Ishikawa H, Sugie K, Murayama K, et al. Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness. Neurology 2002;59:920-3.
7. Ishikawa H, Sugie K, Murayama K, et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004;62:620-3. (Pubitemid 38252806)
8. Allamand V, Briñas L, Richard P, et al. ColVI myopathies: where do we stand, where do we go? Skelet Muscle 2011;1:30-42.
9. Grumati P, Coletto L, Sabatelli P, et al. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 2010;16:1313-20.
10. ClinicalTrials.gov Identifier: NCT01438788. Clinical Trials.gov Website. http://www.clinicaltrials.gov/ (accessed 4 Dec 2012).
11. Baker NL, Morgelin M, Pace RA, et al. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol 2007;62:390-405. (Pubitemid 350105953)
12. Gualandi F, Manzati E, Sabatelli P, et al. Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy. Hum Gene Ther 2012;23:1313-18.
13. Nadeau A, Kinali M, Main M, et al. Natural history of Ullrich congenital muscular dystrophy. Neurology 2009;73:25-31.
14. Pepe G, Bertini E, Bonaldo P, et al. Bthlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, the Netherlands. Neuromuscul Disord 2002;12:984-93. (Pubitemid 35408680)
15. Allamand V, Merlini L, Bushby K. 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, the Netherlands. Neuromuscul Disord 2010;20:346-54.
16. Quijano-Roy S, Allamand V, Riahi N, et al. Predictive factors of severity and management of respiratory and orthopaedic complications in 16 Ullrich CMD patients [abstract]. Neuromuscul Disord 2007;17:844.
17. Briñas L, Richard P, Quijano-Roy S, et al. Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol 2010;68:511-20.
18. Mullender MG, Blom NA, De Kleuver M, et al. A Dutch guideline for the treatment of scoliosis in neuromuscular disorders. Scoliosis 2008;3:14-27.
19. Takaso M, Nakazawa T, Imura T, et al. Surgical correction of spinal deformity in patients with congenital muscular dystrophy. J Orthop Sci 2010;15:493-501.