A child with duchenne muscular dystrophy: A case report of a rare diagnosis among Africans. Issue 12 (18th August 2020)

• Record Type: Journal Article
• Authors: Nassoro, David D.; Torres, Liset; Marando, Rehema; Mboma, Lazaro; Mushi, Seraphine; Habakkuk Mwakyula, Issakwisa
• Is Part Of: Clinical case reports. Volume 8:Issue 12(2020)
• Page Start: 2654
• Page End: 2660
• Publication Date: 2020-08-18
• Subjects: genetics -- neurology; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.3254
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: In Africa, lack of awareness and low index of suspicion of rare diseases like dystrophinopathies, directly or indirectly, contributes to the increased morbidity and mortality. Therefore, even though the data on prevalence is limited, we need to have a high degree of suspicion in patients presenting with suggestive clinical features. Abstract : In Africa, lack of awareness and low index of suspicion of rare diseases like dystrophinopathies, directly or indirectly, contributes to the increased morbidity and mortality. The picture is a muscle biopsy of an 11‐year‐old boy with Duchenne muscular dystrophy showing a transverse section with degenerated skeletal muscles of variable size and necrotic background.