Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy

The American Journal of the Medical Sciences
Nirupa J PatelLuis R Espinoza

Abstract

We report the following 2 subtypes of progressive limb-girdle dystrophy type 2B: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi. The first patient described had weakness in the anterior thigh muscles (LGMD2B) and the second patient had calf muscle weakness and atrophy (Miyoshi). Literature review was performed and LGMD2B was compared and distinguished from other myopathies of similar nature. Genetic testing with polymerase chain reaction analysis of the DYSF gene confirmed the diagnosis in both patients. Additional findings of histopathology, specific stain for sarcolemmal membrane protein, Western blot analysis and clinical presentation clinched the diagnosis further of dysferlinopathy (LGMD2B) in both our patients. Currently, there is no definitive treatment on the horizon and immunosuppressive therapy is not recommended for this condition. Gene therapy may have a future role, but at present, muscle-strengthening exercises and patient awareness are the mainstays.

Citations

Jul 16, 2020·Molecular Biology Reports·Sabrine RekikChokri Mhiri
Dec 12, 2018·Journal of Cellular Physiology·Eskandar TaghizadehAmirhossein Sahebkar
Oct 17, 2018·Pharmacogenomics·Paul J IsacksonGeorgirene D Vladutiu
Nov 24, 2020·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Xuelin FengSushan Luo
May 15, 2021·Archives of Gynecology and Obstetrics·Li-Sha PengYang Zou
Apr 20, 2020·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Gabriela FernándezLuis A Cea

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