Jove
Visualize
Contact Us

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 II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
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...
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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Development of lateral flow assays for the rapid diagnosis of glanders in equids.

Microbiology spectrum·2026
Same author

Changes in social participation between ages 65 and 70 and incident dementia: a Bayesian competing risk analysis.

BMC geriatrics·2026
Same author

Prevalence and Risk Factors for Persistent Post-COVID-19 Condition at 3, 6, 12, and 18 Months After Initial Infection Among Adults Living in a Community of Japan: Yao COVID-19 Study.

Journal of medical virology·2026
Same author

Rotigotine and parkinsonism-hyperpyrexia syndrome.

Clinical parkinsonism & related disorders·2026
Same author

Motivating Factors for Continuous Participation in a Municipality-Initiated Incentive-Based Health Promotion Program: A Qualitative Study.

Journal of general and family medicine·2026
Same author

Development of a Novel Real-Time PCR Assay Differentiating Burkholderia mallei From Burkholderia pseudomallei.

Microbiology and immunology·2026
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Video

Updated: May 27, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

[Myotonic dystrophy type 2].

Takashi Kimura1, Tsukasa Saito

  • 1Department of Neurology, National Hospital Organization, Asahikawa Medical Center, Asahikawa-city, Hokkaido, Japan.

Brain and Nerve = Shinkei Kenkyu No Shinpo
|November 10, 2011
PubMed
Summary

Myotonic dystrophies (DMs) are genetic disorders affecting multiple body systems. This study details a Japanese patient with DM2, revealing unique genetic mutations and comparing clinical features with DM1.

Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • Myotonic dystrophies (DMs) are autosomal dominant disorders with multisystemic manifestations.
  • DM1 and DM2 are the primary types, caused by distinct nucleotide repeat expansions in specific gene loci.
  • DM2 typically presents with milder symptoms than DM1, including proximal muscle weakness, myotonia, and cardiac issues.

Purpose of the Study:

  • To compare the clinical features of DM1 and DM2.
  • To investigate a Japanese patient with DM2 exhibiting unusual expansion mutations.
  • To provide detailed clinical descriptions of this unique DM2 case.

Main Methods:

  • Comparative analysis of clinical features between DM1 and DM2.
  • Genetic analysis to identify expansion mutations in the Japanese DM2 patient.

More Related Videos

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies
14:10

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies

Published on: January 31, 2013

Myo-mechanical Analysis of Isolated Skeletal Muscle
08:42

Myo-mechanical Analysis of Isolated Skeletal Muscle

Published on: February 22, 2011

Related Experiment Videos

Last Updated: May 27, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies
14:10

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies

Published on: January 31, 2013

Myo-mechanical Analysis of Isolated Skeletal Muscle
08:42

Myo-mechanical Analysis of Isolated Skeletal Muscle

Published on: February 22, 2011

  • Detailed clinical examination and documentation of the patient's symptoms.

    • Main Results:

    • DM2 is characterized by diffuse, proximal dominant weakness, wasting, myotonia, cardiac problems, cataracts, and insulin resistance.
    • The Japanese DM2 patient presented with expansion mutations distinct from those commonly reported in European populations.
    • Specific clinical manifestations of the Japanese DM2 patient were documented.

    Conclusions:

    • DM2, while generally milder than DM1, presents a distinct set of clinical features.
    • The identification of novel expansion mutations in a Japanese DM2 patient expands the known genetic landscape of the disease.
    • Detailed case studies are crucial for understanding the variability and genetic diversity of myotonic dystrophies.