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Related Concept Videos

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...
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 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...
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.
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...

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Related Experiment Video

Updated: May 11, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Progressive muscular dystrophies.

Jamel Chelly1, Isabelle Desguerre

  • 1Cochin Institute - Cochin Hospital, INSERM U1016 and Université Paris Descartes, Paris, France.

Handbook of Clinical Neurology
|April 30, 2013
PubMed
Summary

Muscular dystrophies present diverse symptoms based on onset age. Diagnosis relies on histological findings and genetic analysis, with advancements improving care and prevention strategies.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Muscular dystrophies (MDs) encompass a group of genetic disorders characterized by progressive muscle weakness and wasting.
  • Onset and severity vary significantly, from profound functional loss in early-onset forms to mild fatigability in late-onset types.
  • Diagnosis traditionally involves histological examination of muscle biopsies, revealing characteristic changes like fiber degeneration, regeneration, and connective tissue proliferation.

Purpose of the Study:

  • To review the heterogeneous nature of muscular dystrophies, encompassing clinical presentation, diagnostic approaches, and underlying genetic causes.
  • To highlight the diagnostic challenges and common features of Limb-Girdle Muscular Dystrophies (LGMDs).
  • To emphasize the importance of multidisciplinary care and advancements in molecular diagnostics for improved patient outcomes.

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

Immunolabelling Myofiber Degeneration in Muscle Biopsies
06:37

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

Related Experiment Videos

Last Updated: May 11, 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

Immunolabelling Myofiber Degeneration in Muscle Biopsies
06:37

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

Main Methods:

  • Review of clinical and histological features of various muscular dystrophies.
  • Discussion of genetic heterogeneity, including autosomal dominant (LGMD1) and recessive (LGMD2) inheritance patterns.
  • Emphasis on the role of new generation sequencing technologies in molecular diagnosis.

Main Results:

  • Muscular dystrophies exhibit diverse clinical phenotypes and histological alterations, including myofiber degeneration and regeneration.
  • Limb-Girdle Muscular Dystrophies (LGMDs) are characterized by pelvic and shoulder girdle muscle weakness, with potential cardiac involvement, and myofiber necrosis/regeneration.
  • Genetic causes are diverse, involving genes related to muscle structure, membrane integrity, and extracellular matrix.

Conclusions:

  • Accurate diagnosis requires integrating clinical, histological, and genetic information.
  • Advancements in genetic technologies are crucial for identifying specific MD subtypes and enabling personalized care.
  • Multidisciplinary management, including genetic counseling and prenatal diagnosis, is essential for optimizing patient and family support.