Musculosqueletic manifestations of mucopolysaccharidosis type 1
Abstract
Mucopolysaccharidoses (MPS) comprise a group of disorders characterized by progressive lysosomal accumulation of glycosaminoglycans (GAG). Type I MPS is a complex and progressive disease that affects multiple organs, with a high number of mutations. In patients with MPS I the phenotype varies from Hurler syndrome, the most severe disease, the intermediate type of Hurler-Scheie and attenuated Scheie‘s disease. The most frequent musculoskeletal disorders include articular contractures, multiplex dysostosis, carpal tunnel syndrome, spinal affection, and others. pGALS (pediatric, gait, arms, legs, and spine) is a useful assessment tool to detect joint anomalies in children, identifying MPS suspicions for early diagnosis and treatment.Downloads
References
(1) Bay L, Amartino H, Barreiro C, Cozzo V, Czornyj L, Drelichman G, et al. Grupo de Trabajo Enfermedades poco frecuentes. Consenso de diagnóstico y tratamiento de la Mucopolisacaridosis tipo I. Arch Argent Pediatr 2008; 106(4):361-68.
(2) Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50(5):4-12.
(3) Muenzer J, Wraith JE, Clarke LA. International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009; 123: 19-29.
(4) Cimaz R, Coppa GV , Kone-Paut I, Link B, Pastores GM, Elorduy MR, et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J 2009 Oct 23;7:18. doi: 10.1186/1546-0096-7-18.
(5) Jadhav TM, Kornberg AJ, Peters H, Lee J, Ryan MM. Carpal Tunnel Syndrome in Pediatric Mucopolysaccharidoses. JIC NA 2015;15:101. DOI: http://dx.doi.org/10.17724/jicna.2015.101
(6) Pastores GM, Arn P, Beck M, Clarke JT, Guffon N, Kaplan P, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 2007;91:37-47.
(7) Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management, Arch Dis Child 1995;72:263–7.
(8) Stenson PD, Ball EV, Mort M, Howells K, Philips AD, Thomas NS, et al. Human Gene Mutation Data base: 2003 update. Hum Mutat 2003;21(6):577-581.
(9) Hurler G. Über einen Typ multipler Abartungen, vorwiegend am Skelett system. Z Kinderheilk 1919;24:220.
(10) Scheie H, Hambrick G, Barness L. A newly recognized forme fruste of Hurler’s disease (gargoylism). Am J Ophthalm 1962;53:753–69.
(11) V ijay S, Wraith JE. Clinical presentation and follow up of patients with attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr 2005;94:872–877.
(12) Fisher RC , Horner RL, Wood WE. The hand in mucopolysaccharide disorders. Clin Orthop Relat Res 1974;104:191–199.
(13) Haddad FS, Jones DH, Vellodi A, Kane N, Pitt MC. Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. J Bone Joint Surg Br 1997;79:576-82.
(14) T andon V, Williamson JB, Cowie RA, Wraith JE. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Jt Surg Br 1996;78:938–945.
(15) Manger B, Mengel E, Schaefer RM. Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol 2007;16:335-341.
(16) Van Meir N, De Smet L. Carpal tunnel syndrome in children. Acta Orthop Belg. 2003;69:387-395.
(17) White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33.
(18) Paterson DE, Harper G, Weston HJ, Mattingley J. Maroteaux Lamy syndrome, mild form–MPS vi B. Br J Radiol 1982;55:805–812.
(19) Tønnesen T, Gregersen HN, Guttler F. Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux Lamy phenol type. J Med Genet 1991;28:499–501.
(20) Melikoglu MA, Kocabas H, Sezer I, Cay HF, Cassidy AG, Balci N. Legg–Perthes disease-like joint involvement and diagnosis delay in Scheie syndrome: a case report. Clin Rheumatol 2007;26(11):1937–1939.
(21) Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v19-25.
(22) Clarke L, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Long-termefficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009; 123:229-240.
(23) Dumas HM, Fragala MA, Haley SM, Skrinar AM, Wraith JE, Cox GF. Physical performance testing in mucopolysaccharidosis I: a pilot study. Pediatr Rehabil 2004;7:125–131.
(24) Muñoz-Rojas MV, Bay L, Sanchez L, van Kuijck M, Ospina S, Cabello JF, Martins AM. Clinical manifestations and treatment of mucopoly saccharidosis type I patients in Latin America as compared with the rest of the world. J Inherit Metab Dis 2001;34(5):1029–37.
(25) Cimaz R, Vijay S, Haase C, Coppa GV , Bruni S, Wraith E, Guffon N. Attenuated type I mucopolysaccharidosis in the differential diagnosis o of juvenile idiopathic arthritis: a series of 13 patients with Scheie syn drome. Clin Exp Rheumatol 2006;24:196-202.
(26) C leary MA, Wraith JE. The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr. 1995;84:337-9.
(27) Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. The natural history of MPS I: global perspectives from the MPS I Registry [published online March 27, 2014]. Genet Med. doi:10.1038/gim.2014.25
(28) Bruni S, Lavery C, Broomfield A. The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences. Mol Genet Metab Rep. 2016 Sep;8:67–73.
(29) Foster HE, Kay LJ, Friswell M, Coady D, Myers A. Musculoskeletal screening examination (pGALS) for school-age children based on the adult GALS screen. Arthritis Rheum 2006;55:709–16.
(30) Doherty M, Dacre J, Dieppe P, Snaith M. The ‚GALS‘ locomotor screen. Ann Rheum Dis 1992;51:1165–69.
(31) Chan MO, Sen ES, Hardy E, Hensman P, Wraith E, Jones S, et al. Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS. Pediatric Rheumatology 2014:12:32.
