Abstract
Most alpha-mannosidosis patients described have been children and information on the natural course of the disorder has been based on a very limited number of observations. In order to assess the disease presentation in detail and to study disease characteristics, a study was started in 1991 and has been ongoing for over 20 years. Patients with confirmed alpha-mannosidosis were recruited through The International Society for Mannosidosis and Related Diseases (ISMRD) where families affected with alpha-mannosidosis received a questionnaire on general clinical information to be filled out by the responsible physician. The questionnaire was returned by 125 patients (64 %). Of these, 45 patients were 15 years old or older at the time of evaluation. The questionnaire allowed us to assess the following features: Facial dysmorphism, columnar disease, arthritis, myopathy, hearing impairment, mental impairment, psychosis, bone disease and motor function as well as general health. This study describes the progression of alpha-mannosidosis and may be helpful in determining the clinical characteristics for assessments of prognosis.
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Acknowledgments
We thank the doctors Michael Albert, Matthias Baumann, Michael Beck, Barbara Bertagnolio, Nils Bosshard, Lorraine Burnett, Loreta Cimbalistiene, Barbara Czartoryska, Barbara Dawydzik, Otto P. van Diggelen, K. Ecker, Janice Fletcher, Peter Freisinger, Jaya Ganesh, Rosanna Gatti, Nina Gusina, Bengt Hagberg, P Hermier, Grazyna Irahu, Natalia Jourkova, Øivind Kanavin, JBC de Klerk, Lech Korniszewski, ML Kwee, Pattrick Lim, Allan Meldgaard Lund, John Mann, Helen Michelakakis, Nicole Muschol, Encarna Guillen Navarro, Laust Nielsen, Nicola Poplawski, Klaus Raab, Martin Renlund, David R Rimoin, Frascisco Rubera, Joerg Seidel, Katherine B. Sims, Liselotte Skov, Flemming Skovby, Erwin Stadler, Ari Sutin, William Taylor, Birute Tumiene, Anna Tylky-Szymanska, Maki Urushihara, Richard M.van Vugt, Ron A. Wevers, Callum Wilson, Bryan Winchester, Ed Wraith, Marie-Therese Zabot, and Jiri Zeman for providing clinical information from the patients included in this study. This study was part of the EURA-MAN project (European Comission contract no QLK3-CT2001-0258) and the HUE-MAN project (European Commission FP VI contract no LSHM-CT-206-018692).
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Communicated by: Ed Wraith
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Alpha-mannosidosis questionnaire. (DOCX 14 kb)
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Malm, D., Riise Stensland, H.M.F., Edvardsen, Ø. et al. The natural course and complications of alpha-mannosidosis—a retrospective and descriptive study. J Inherit Metab Dis 37, 79–82 (2014). https://doi.org/10.1007/s10545-013-9622-2
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DOI: https://doi.org/10.1007/s10545-013-9622-2