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Related Concept Videos

Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

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...
Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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...

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Related Experiment Video

Updated: May 16, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Muscle phenotype in patients with myotonic dystrophy type 1.

Grete Andersen1, Mette C Ørngreen, Nicolai Preisler

  • 1Neuromuscular Research Unit, Department of Neurology, 3342, Rigshospitalet Blegdamsvej 9, DK-2100, Copenhagen, Denmark. grete.andersen@rh.dk

Muscle & Nerve
|November 22, 2012
PubMed
Summary

Muscle weakness in myotonic dystrophy type 1 (DM1) correlates with reduced Na(+)-K(+) pump function and CTG expansion. Central nuclei are not a prominent feature in proximal muscles of DM1 patients.

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Tissue Triage and Freezing for Models of Skeletal Muscle Disease
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Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

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Last Updated: May 16, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
05:58

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

Area of Science:

  • Neurology
  • Muscle Physiology
  • Genetic Disorders

Background:

  • The underlying mechanisms of muscle pathology in myotonic dystrophy type 1 (DM1) remain unclear.
  • Understanding the muscle phenotype is crucial for managing DM1 progression.

Purpose of the Study:

  • To investigate the relationship between muscle strength, Na(+)-K(+) pump content, and CTG repeat expansion in DM1 patients.
  • To characterize the histopathological features of proximal muscles in DM1.

Main Methods:

  • Assessed muscle strength using hand-held dynamometry in 38 DM1 patients.
  • Evaluated myotonia via handgrip testing and compound muscle action potential analysis.
  • Analyzed muscle biopsies for morphological changes and Na(+)-K(+) pump content.

Main Results:

  • Muscle strength showed a significant inverse correlation with Na(+)-K(+) pump content (r = 0.60, P < 0.001) and CTG expansion.
  • No significant correlation was found between CTG expansion and myotonia severity, proximal histopathology, or Na(+)-K(+) pump levels.
  • Histopathological examination revealed minimal presence of centrally placed nuclei (0.2-6.9%) in proximal muscles.

Conclusions:

  • Muscle weakness in DM1 is associated with reduced Na(+)-K(+) pump function and CTG repeat length.
  • Centrally placed nuclei are not a characteristic feature of proximal muscle pathology in DM1.
  • These findings contribute to understanding DM1 pathogenesis and muscle involvement.