Related Experiment Video
Updated: Mar 2, 2026

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
Published on: September 29, 2014
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy
Nirupa J Patel1, Kenneth W Van Dyke1, Luis R Espinoza1
1Division of Rheumatology, Louisiana State University Health Science Center, New Orleans, Louisiana.
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.
Related Concept Videos
Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Satellite Stem Cells and Muscular Dystrophy
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Lysosomal Hydrolases
Sex-linked Disorders

