Related Experiment Video
Updated: Dec 14, 2025
06:52
Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
Published on: September 29, 2014
54.3K
Limb Girdle Muscular Dystrophies
Jacob Bockhorst1, Matthew Wicklund1
1University of Colorado School of Medicine, Anschutz Medical Campus, Mail Stop B185, Academic Office 1, 12631 East 17th Avenue, Aurora, CO 80045, USA.
Neurologic Clinics
|July 25, 2020
Summary
Limb girdle muscular dystrophies (LGMDs) are genetic muscle disorders affecting walking ability. New gene and cell therapies show promise for treating these progressive muscle-weakening conditions.
Area of Science:
- Neurology
- Genetics
- Muscular Dystrophy Research
Background:
- Limb girdle muscular dystrophies (LGMDs) are a group of inherited neuromuscular disorders.
- Characterized by progressive muscle weakness primarily affecting the shoulders and hips.
- Patients typically maintain the ability to walk independently for a period.
Observation:
- Elevated creatine kinase levels are common in LGMD patients.
- Muscle imaging may reveal fatty and fibrous tissue deposition.
- Muscle biopsy often shows dystrophic changes.
Findings:
- Distinctive clinical features aid in diagnosing specific LGMD subtypes.
- Early diagnosis is crucial for timely intervention.
- Genetic heterogeneity contributes to varied clinical presentations.
Implications:
- Emerging gene therapies, including gene replacement and editing, offer new treatment avenues.
- Cell-based therapies, stem cell treatments, and small molecule interventions are being explored.
- These advanced therapies hold potential to significantly reduce the clinical severity of LGMDs.
Related Concept Videos
01:21Satellite Stem Cells and Muscular Dystrophy
2.2K
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.2K
01:28Disorders of the Skeletal Muscle
1.5K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
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...
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...
1.5K
01:26Cross-bridge Cycle
121.5K
As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
121.5K
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
248
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
248
01:22Lysosomal Hydrolases
4.3K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.3K
01:20Gastrointestinal Motility Disorders
916
Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...
916