Affiliations: [a] King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia | [b] King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia | [c] Department of Pathology and Lab Medicine, King Abdulaziz Medical City, Jeddah, Saudi Arabia | [d] Department of Medicine, King Abdulaziz Medical City, Jeddah, Saudi Arabia | [e] Department of Radiology, King Abdulaziz Medical City, Jeddah, Saudi Arabia
Correspondence:
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Corresponding author: Hussein Algahtani, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, P.O. Box: 12723, Jeddah, 21483T, Saudi Arabia. E-mail: [email protected].
Abstract: Dysferlinopathies encompass a group of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle. It is a genetic disorder caused by a mutation in the dysferlin gene (DYSF) with an autosomal recessive mode of inheritance. In this article, we report a case of Limb-girdle muscular dystrophy type 2B with a rare homozygous duplication c.164dupA, p.(Ile57Hisfs*8) (rs863225020) in DYSF in a Saudi patient. To the best of our knowledge, this is the first case from Saudi Arabia with complete clinical data, pathology findings, radiology findings, and genetic analysis. Although there is no curative treatment for this disease, an accurate diagnosis is important to avoid using steroids and immunosuppressive medications, which are not effective and may have several side effects. Further studies are needed to explore potential therapies for this rare condition.
Keywords: Dysferlinopathy, limb-girdle muscular dystrophy type 2B, muscular dystrophy, Saudi Arabia
