Jove
Visualize
Contact Us
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 Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

2.3K
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...
2.3K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

741
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...
741
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

776
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,...
776
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

830
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
830
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

852
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
852
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

3.5K
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
3.5K

You might also read

Related Articles

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

Sort by
Same author

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Neurology. Genetics·2026
Same author

A simple, sensitive microsample LC-MS assay for quercetin and isorhamnetin in mouse and human plasma: application to EMIQ treatment in myotonic dystrophy type 1.

Bioanalysis·2026
Same author

Analysis of CD8 Cytotoxic T-Cells in Patients With Myelodysplastic Neoplasms and T-Cell Large Granulocyte Lymphocytic Leukemia.

European journal of haematology·2026
Same author

Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1.

Muscle & nerve·2026
Same author

Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium study.

Neuromuscular disorders : NMD·2026
Same author

Developing endpoints for the cardiac burden in myotonic dystrophy type 1: A workshop report.

Journal of neuromuscular diseases·2026

Related Experiment Video

Updated: Apr 7, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

16.1K

Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis.

Nicholas E Johnson1, Diana Abbott2, Lisa A Cannon-Albright2,3

  • 1Department of Neurology, University of Utah School of Medicine, Salt Lake City, 30 N 1900 SOM 3E228, Utah, 84132, USA.

Muscle & Nerve
|July 15, 2015
PubMed
Summary

Individuals with myotonic dystrophy face higher risks for sleep apnea, hypothyroidism, intellectual disability, and severe cardiac issues. This population study provides crucial data for enhanced patient counseling and care.

Keywords:
genetic epidemiologyhypothyroidismmyotonic dystrophypopulationrelative risksleep apnea

More Related Videos

Immunolabelling Myofiber Degeneration in Muscle Biopsies
06:37

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

9.6K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.4K

Related Experiment Videos

Last Updated: Apr 7, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

16.1K
Immunolabelling Myofiber Degeneration in Muscle Biopsies
06:37

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

9.6K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.4K

Area of Science:

  • Genetics and Genetic Diseases
  • Epidemiology
  • Public Health

Background:

  • Myotonic dystrophy (DM) is a rare genetic disorder.
  • Population-level data on comorbidities in DM patients are lacking.
  • Understanding these risks is vital for patient management.

Purpose of the Study:

  • To conduct a population-level relative risk assessment for comorbidities in myotonic dystrophy.
  • To identify specific health conditions associated with increased risk in DM patients.
  • To inform clinical counseling and patient care strategies.

Main Methods:

  • Utilized the Utah Population Database for patient identification.
  • Employed ICD-9 coding to diagnose myotonic dystrophy.
  • Compared comorbidity prevalence in DM patients against the general Utah population.

Main Results:

  • Identified significantly increased risks for central and obstructive sleep apnea.
  • Confirmed elevated risks for hypothyroidism and intellectual disability.
  • Documented a 60-fold increased risk of cardiac conduction disorder in DM patients.

Conclusions:

  • This study provides the first population-level relative risk assessment for DM comorbidities.
  • Findings enable more accurate counseling regarding associated health risks.
  • Highlights the need for proactive screening and management of identified comorbidities.