title: Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature.
abstract: BACKGROUND
  Emery-Dreifuss muscular dystrophy is a rare genetic muscular disease, presenting mainly with contractures, weakness and cardiac conduction abnormalities. Its clinical and laboratory similarities to other muscular dystrophies, and rarity poses diagnostic challenges, requiring a high index of suspicion in resource limited settings.
  
  
  METHODS
  An 8 year old sub-Saharan male presented with rigidity and deformity of both elbows and ankles, and weakness of the upper limbs and lower limbs for duration of 4 months. This progressed to inability to stand and walk. There was no mental impairment. Physical examination was remarkable for contractures of the elbows and ankles, and wasting of muscles of the limbs and trunk, with a scapulohumeroperoneal pattern, and tachycardia. After laboratory investigations, a diagnosis of Emery-Dreifuss muscular dystrophy was suspected. Physiotherapy was started, wheel chair was prescribed, and referral to a specialist center was done for appropriate management.
  
  
  CONCLUSIONS
  Emery-Dreifuss muscular dystrophy is a rare disabling muscular disease which poses a diagnostic challenge. High index of suspicion is paramount for its early diagnoses to prevent orthopedic and cardiac complications. Prompt diagnosis and management is essential to improve on the prognosis of this disease.
authors.affiliation: Grace Community Health and Development Association (GRACHADA), P.O Box 15, Kumba, Cameroon.|Galactic Corps Research Group (GCRG), Buea, South West Region, Cameroon.
authors.forename: Cyril Jabea
authors.initials: CJ
authors.lastname: Ekabe
authors.affiliation: Grace Community Health and Development Association (GRACHADA), P.O Box 15, Kumba, Cameroon.|District Hospital Wum, Wum, North West Region, Cameroon.|Galactic Corps Research Group (GCRG), Buea, South West Region, Cameroon.
authors.forename: Jules
authors.initials: J
authors.lastname: Kehbila
authors.affiliation: Galactic Corps Research Group (GCRG), Buea, South West Region, Cameroon. sama.carlson@yahoo.com.|Bambalang Medicalised Health Centre, Bambalang, Northwest Region, Cameroon. sama.carlson@yahoo.com.
authors.forename: Carlson-Babila
authors.initials: CB
authors.lastname: Sama
authors.affiliation: Grace Community Health and Development Association (GRACHADA), P.O Box 15, Kumba, Cameroon.|Presbyterian General Hospital Acha-Tugi, Acha-Tugi, Northwest Region, Cameroon.
authors.forename: Benjamin Momo
authors.initials: BM
authors.lastname: Kadia
authors.affiliation: Grace Community Health and Development Association (GRACHADA), P.O Box 15, Kumba, Cameroon.|Non Communicable Diseases Unit, Clinical Research Education, Networking & Consultancy (CRENC), Douala, Cameroon.
authors.forename: Martin Hongieh
authors.initials: MH
authors.lastname: Abanda
authors.affiliation: Department of Medicine, Faculty of Health Sciences, University of Buea and Global Health Dialogue Foundation, Buea, Cameroon.
authors.forename: Gottlieb Lobe
authors.initials: GL
authors.lastname: Monekosso
mesh_terms: D001706:Biopsy; D002163:Cameroon; D002648:Child; D004562:Electrocardiography; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis* / Q000473:pathology; D011203:Poverty; D011379:Prognosis; D012424:Rural Population; D016896:Treatment Outcome
keywords: Cameroon; Case report; Emery-Dreifuss muscular dystrophy; Rural setting