Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia.

Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia. J Back Musculoskelet Rehabil. 2018 Jun 19;: Authors: Algahtani H, Shirah B, Alassiri AH, Habib BA, Almuhanna R, Ahamed MF 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. PMID: 29966189 [PubMed - as supplied by publisher]
Source: Journal of Back and Musculoskeletal Rehabilitation - Category: Orthopaedics Tags: J Back Musculoskelet Rehabil Source Type: research