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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...
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...
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.
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...
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

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 leads...

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Related Experiment Video

Updated: May 11, 2026

Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis
06:12

Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis

Published on: January 11, 2014

Spinal muscular atrophies.

Louis Viollet1, Judith Melki

  • 1Hôpital Necker-Enfants Malades and Université Paris Descartes, Paris, France.

Handbook of Clinical Neurology
|April 30, 2013
PubMed
Summary

Spinal muscular atrophies (SMA) result from SMN1 gene mutations impacting RNA metabolism and motor neuron health. Research focuses on SMN2 gene therapies to improve patient quality of life.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Spinal muscular atrophies (SMA) are genetic neuromuscular disorders characterized by lower motor neuron degeneration.
  • The most common cause of SMA is mutations in the survival motor neuron 1 gene (SMN1), crucial for RNA metabolism.
  • The precise link between SMN's role in RNA processing and motor neuron degeneration is still under investigation.

Purpose of the Study:

  • To explore the role of SMN protein in RNA metabolism and its connection to motor neuron degeneration in SMA.
  • To review the advancements in understanding SMA pathogenesis and the development of therapeutic strategies.
  • To identify potential molecular targets for novel SMA therapeutics.

Main Methods:

  • Review of existing literature on SMN gene function, RNA metabolism, and SMA.

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Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles
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Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles

Published on: September 25, 2015

A Functional Motor Unit in the Culture Dish: Co-culture of Spinal Cord Explants and Muscle Cells
06:06

A Functional Motor Unit in the Culture Dish: Co-culture of Spinal Cord Explants and Muscle Cells

Published on: April 12, 2012

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Last Updated: May 11, 2026

Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis
06:12

Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis

Published on: January 11, 2014

Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles
09:07

Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles

Published on: September 25, 2015

A Functional Motor Unit in the Culture Dish: Co-culture of Spinal Cord Explants and Muscle Cells
06:06

A Functional Motor Unit in the Culture Dish: Co-culture of Spinal Cord Explants and Muscle Cells

Published on: April 12, 2012

  • Analysis of genetic mutations in SMN1 and their impact on motor neuron development and maintenance.
  • Examination of therapeutic strategies targeting the SMN2 gene and identification of novel molecular targets.

    • Main Results:

    • Mutations in SMN1 disrupt RNA metabolism, potentially leading to loss-of-function or toxic RNA species affecting motor neurons.
    • SMN protein is essential for motor axon and neuromuscular junction development and maintenance across various organisms.
    • Significant progress has been made in improving patient care and developing therapies, particularly those targeting the SMN2 gene.

    Conclusions:

    • Understanding the link between RNA processing defects and motor neuron degeneration is key to advancing SMA research.
    • Therapeutic strategies focusing on SMN2 have shown promise, with several drugs in preclinical development.
    • Identifying novel molecules involved in the SMA degenerative cascade offers promising avenues for future therapeutic interventions.