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Related Concept Videos

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...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
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...
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...
Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin01:26

Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin

Directly acting muscle relaxants like dantrolene and botulinum toxin (BoNT) have distinct mechanisms and applications. Dantrolene, a hydantoin derivative, acts on the ryanodine receptor (RYR1) in skeletal muscle cells. RYR1 are calcium channels present at the sarcoplasmic reticulum membrane. In response to excitation, they release calcium ions from the sarcoplasmic reticulum to the cytosol. Calcium promotes actin-myosin-mediated contraction of muscles.
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Myasthenia Gravis: Diagnostic Tests

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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Published on: July 29, 2016

Myotonic dystrophy: from bench to bedside.

Nicholas E Johnson1, Chad R Heatwole

  • 1Department of Neurology, University of Rochester, Rochester, New York 14642, USA. Nicholas_johnson@urmc.rochester.edu

Seminars in Neurology
|November 3, 2012
PubMed
Summary

Myotonic dystrophy types 1 and 2 are genetic disorders causing muscle issues and cataracts. Management involves symptom care, screening, and multidisciplinary approaches for these repeat expansion diseases.

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Last Updated: May 17, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies
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Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies

Published on: January 31, 2013

Area of Science:

  • Genetics and Molecular Biology
  • Neurology
  • Rare Diseases

Background:

  • Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant disorders.
  • Characterized by muscle weakness, myotonia, and cataracts.
  • Involve multisystemic dysfunction including cardiac, brain, and respiratory systems.

Purpose of the Study:

  • To review the pathogenesis, clinical features, diagnostic tests, and management of DM1 and DM2.
  • To outline promising clinical research for patients with these disorders.

Main Methods:

  • Review of existing literature on DM1 and DM2.
  • Analysis of pathogenesis related to repeat expansions and RNA-splicing interference.
  • Summary of current diagnostic and management strategies.

Main Results:

  • Pathogenesis involves trinucleotide (DM1) and tetranucleotide (DM2) repeat expansions.
  • Toxic mutant mRNA interferes with RNA splicing mechanisms.
  • Optimal management requires symptomatic care, screening, counseling, and a multidisciplinary approach.

Conclusions:

  • DM1 and DM2 are complex genetic disorders with significant multisystemic impact.
  • Understanding pathogenesis is key to developing targeted therapies.
  • A comprehensive, multidisciplinary approach is essential for optimal patient care and research advancement.