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

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...
Cross-bridge Cycle01:26

Cross-bridge Cycle

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.
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...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

You might also read

Related Articles

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

Sort by
Same author

A portrait of facioscapulohumeral muscular dystrophy through history: past milestones and future challenges on the road to understanding and treatment.

Neuromuscular disorders : NMD·2026
Same author

Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity.

Journal of neuromuscular diseases·2026
Same author

Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature.

Journal of neuromuscular diseases·2025
Same author

The participants' perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands - A qualitative study.

Journal of neuromuscular diseases·2025
Same author

The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound.

Muscle & nerve·2024
Same author

26<sup>th</sup> Meryon Lecture St Anne's College, Oxford, 5th July 2024 FSHD: The long road to DUX4.

Neuromuscular disorders : NMD·2024

Related Experiment Video

Updated: Jun 20, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
08:16

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

Facioscapulohumeral muscular dystrophy.

George W Padberg1, Baziel Gm van Engelen

  • 1Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. g.padberg@neuro.umcn.nl

Current Opinion in Neurology
|September 3, 2009
PubMed
Summary

Recent genetic advances illuminate facioscapulohumeral muscular dystrophy (FSHD) pathogenesis. Research suggests muscle and vascular development pathways, and homeobox gene dysregulation are key factors in FSHD.

More Related Videos

Performing Human Skeletal Muscle Xenografts in Immunodeficient Mice
07:48

Performing Human Skeletal Muscle Xenografts in Immunodeficient Mice

Published on: September 16, 2019

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

Related Experiment Videos

Last Updated: Jun 20, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
08:16

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

Performing Human Skeletal Muscle Xenografts in Immunodeficient Mice
07:48

Performing Human Skeletal Muscle Xenografts in Immunodeficient Mice

Published on: September 16, 2019

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

Area of Science:

  • Genetics
  • Molecular Biology
  • Neuromuscular Disorders

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) pathogenesis remains incompletely understood.
  • Recent genetic discoveries offer new insights into disease mechanisms.

Purpose of the Study:

  • To review recent advancements in understanding FSHD pathogenesis.
  • To highlight novel genetic findings and their implications.

Main Methods:

  • Review of current scientific literature on FSHD.
  • Analysis of recent genetic and molecular studies.

Main Results:

  • FSHD pathogenesis involves critical muscle development pathways.
  • Vascular development pathways may also play a role in FSHD.
  • Evidence suggests homeobox-related transcriptional dysregulation in FSHD.

Conclusions:

  • Recent findings provide a foundation for future FSHD research.
  • Identifying key pathways opens avenues for potential therapeutic targets.