Abstract
Background: Muscular dystrophy (MD) is a recognized cause of neurodisability in children. However, the prevalence, presentation and outcome in Nigerian children had been poorly documented.
Methods: A retrospective review of the records of cases of muscular dystrophies seen over a period of 11 years was undertaken to describe the frequency, types, clinical presentation and outcomes of MD in our centre.
Results: Thirty cases of MD were seen out of 2607 new cases and this accounted for 1.2% of new cases seen over the period. Six cases were excluded from further analysis due to missing or incomplete information. Among the 24 cases analysed, males (83.3%) were more frequently affected than females (16.6%) giving a male to female ratio of 5:1. The first symptom was noticed at 7.3 ± 4.1 years while mean age at diagnosis was 10±3.9years. Diagnosis was mainly clinical with 71% having features of Duchenne muscular dystrophy (DMD). Only 2 (8.3%) were able to have serum creatinine kinase assay and muscle biopsy for confirmation and only 2 (8.3%) had access to assisted locomotive device. Twenty-two (91.7%) were lost to follow-up after 1 to 2
clinic visits while one died at home.
Conclusion: DMD is the commonest type of MD seen in Nigerian children and it is associated with delayed presentation and a high default rate. Although the prognosis of MD is poor even in the best centres, public awareness can enhance early presentation and compliance with follow-up schedules while multidisciplinary support can improve the quality of life of patients with MD during the course of management.
Keywords: Muscular dystrophies, children, multidisciplinary
Abstrait
Contexte: La dystrophie musculaire (DM) est une cause reconnue de neurodisabilité chez les enfants. Cependant, la prévalence, la présentation et les résultats chez les enfants nigérians ont été mal documentés.
Méthodes: Une revue rétrospective des dossiers des cas de dystrophies musculaires observés sur une période de 11 ans a été entreprise pour décrire la fréquence, les types, la présentation clinique et les résultats de la DM dans notre centre .
Résultats: Trente cas de DM ont été vus sur 2607 nouveaux cas et cela représentait 1,2% des nouveaux cas vus sur la période. Six cas ont été exclus de l’analyse approfondie en raison d’informations manquantes ou incomplètes. Parmi les 24 cas analysés, les garçons (83,3%) étaient plus fréquemment touchés que les filles (16,6%), donnant un ratio garçon : femme de 5 : 1. Le premier symptôme a été remarqué à 7,3 ± 4,1 ans alors que l’âge moyen au diagnostic était de 10 ± 3,9 ans. Le diagnostic était principalement clinique avec 71% présentant des caractéristiques de dystrophie musculaire de Duchenne (DMD). Seulement 2 (8,3%) ont pu subir un test de créatinine kinase sérique et une biopsie musculaire pour confirmation et seulement 2 (8,3%) ont eu accès à un dispositif de locomotive assistée. Vingt-deux (91,7%) ont été perdus de vue après 1 à 2 visites à la clinique tandis qu’un était mort à domicile.
Conclusion: La DMD est le type de DM la plus courante observée chez les enfants nigérians et elle est associée à un retard de présentation et à un taux de défaut élevé. Bien que le pronostic de la DM soit médiocre même dans les meilleurs centres, la sensibilisation du public peut améliorer la tôt présentation et le respect des calendriers de suivi, tandis que le soutien multidisciplinaire peut améliorer la qualité de vie des patients atteints de DM au cours de la prise en charge.
Mots clés: Dystrophies musculaires, enfants, multidisciplinaire
Correspondence: Dr. O.A. Oyinlade, Department of Paediatrics, College of Medicine, University of Ibadan, Ibadan, Nigeria. E-mail: ladealex2005@yahoo.com
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