BackgroundMorquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan.PurposeTo prepare a systematic review of the prevalence of Morquio A in multiple countries and suggest recommendations for reporting rare diseases.MethodsMedline, Medline In-Process, Medline Daily Update, Embase, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, Database of Abstracts of Reviews of Effects, Health Technology Assessment Database and PROSPERO were searched from inception to October 2013 to identify relevant information on the epidemiology of Morquio A. Forty Patient Organisation Representatives (POR) and Key Opinion Leaders (KOL) across 24 countries were contacted for data. Observational studies were included and case reports were excluded. Searches were performed without date or language restriction. Two researchers independently screened and extracted data. Quality of study reporting was assessed using a checklist adapted from STROBE (STrengthening the Reporting of OBservational studies in Epidemiology). Point or birth prevalence was stratified according to diagnostic method and discussed narratively.ResultsIn total 9,074 records were retrieved from searching and 25 studies were included for data extraction. Twenty out of 40 KOL and POR responded (50%) and 9 provided data (23%). Point prevalence of Morquio A was 1 per 926,000 in Australia, 1 per 1,872,000 in Malaysia and 1 per 599,000 in UK and Morquio (unclassified) was 1 per 323, 000 in Denmark. Birth prevalence of Morquio A (using recommended diagnostic methods) ranged from 1 per 71,000 in UAE to 1 per 500,000 in Japan. All results were compromised by poor study reporting and internal validity.ConclusionsThe review highlighted that there is a misunderstanding of the definitions for prevalence and incidence in the field; that studies were poorly reported (diagnostic methods and patient characteristics) and that no suitable quality assessment tool exists. Overestimation and underestimation of prevalence data can occur. Bespoke reporting guidelines and a quality assessment tool specifically for prevalence of rare diseases are recommended.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-014-0173-x) contains supplementary material, which is available to authorized users.
ZusammenfassungHintergrund: Kreuzschmerzen gehören zu den vordringlichen Gesundheitsproblemen in industrialisierten Ländern. Vor kurzem wurde hierzu eine europäische Leitlinie verabschiedet. Ziel: Die für die Physiotherapie relevanten Empfehlungen der Leitlinie sowie deren zugrunde liegende Evidenz werden dargestellt. Methode: Die Empfehlungen der Leitlinie basieren auf systematischen Übersichtsarbeiten, internationalen Leitlinien und der Konsensbildung in einer europäischen Expertengruppe für Kreuzschmerzen. Für die Literatursuche wurde auf Cochrane Library, Medline und Embase zurückgegriffen (1966( bis Oktober 2003. Ergebnisse: Für eine frühzeitige Aktivierung, gegebenenfalls unterstützt durch eine medikamentöse Schmerztherapie, existieren eindeutige Wirksamkeitsnachweise höchster Evidenzstufe. Für die Effektivität Manueller Therapie bzw. bei subakuten Beschwerden für multiprofessionelle Programme findet sich moderate Evidenz. Studien zu Bewegungsübungen oder Traktionsverfahren zeigen widersprüchliche Ergebnisse, und die Wirksamkeit von Rü-ckenschulen und Massagen ist bislang unzureichend untersucht. Daher können diese Maßnahmen derzeit nicht empfohlen werden. Schlussfolgerung: Mit Ausnahme der Manuellen Therapie sollten physiotherapeutische Maßnahmen in der Behandlung akuter Abstract Background: Low back pain is one major health problem in industrialised countries. Recently a European guideline referring to this topic was released. Objective: The recommendations and the evidence of the guideline which are relevant for physiotherapists are presented. Methods: The guideline's recommendations are based on systematic reviews, international guidelines, and discussions of an European expert group for low back pain. Literature request covered the Cochrane library, Medline and Embase (1966( until October 2003. Results: There is clear evidence for the effectiveness of early activation, if necessary supported by analgesic medication. The effectiveness of manipulative therapy and respectively of multiprofessional programs for patients with subacute pain showed moderate evidence. Studies on the effectiveness of exercise therapy or traction found contradictory results, and the evidence of back school and massage therapy is insufficient. Therefore these therapeutical measures cannot be recommended at present. Conclusion: With the exception of manipulative therapy physiotherapy should not be used for patients with acute unspecific low back pain. Concerning the management of subacute pain,
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