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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
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Cross-bridge Cycle01:26

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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.
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Satellite Stem Cells and Muscular Dystrophy01:21

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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...
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Myasthenia Gravis: Overview and Treatment01:20

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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.
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Myasthenia Gravis: Diagnostic Tests01:15

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Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
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Chemical synapses are specialized sites between two neurons or between a neuron and a non-neuronal cell like a muscle, glandular or sensory cell.
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Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
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Spinal muscular atrophy.

Eugenio Mercuri1,2, Charlotte J Sumner3,4, Francesco Muntoni5,6

  • 1Paediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. eugeniomaria.mercuri@policlinicogemelli.it.

Nature Reviews. Disease Primers
|August 4, 2022
PubMed
Summary
This summary is machine-generated.

Spinal muscular atrophy (SMA) treatments are evolving. New therapies increasing survival motor neuron (SMN) protein are redefining care, leading to new SMA phenotypes and patient demographics.

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Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by SMN1 gene mutations, leading to motor neuron loss and muscle weakness.
  • Current standard-of-care focuses on supportive multidisciplinary care for SMA patients.
  • Advances in understanding SMA pathogenesis have spurred the development of novel therapeutic strategies.

Purpose of the Study:

  • To review the impact of newly approved therapies on the standard of care for Spinal Muscular Atrophy.
  • To highlight the emergence of new SMA phenotypes and demographic shifts due to improved patient survival.
  • To discuss the distinct molecular mechanisms, administration routes, and biodistributions of current SMA treatments.

Main Methods:

  • Review of current literature on Spinal Muscular Atrophy (SMA) pathogenesis and treatment.
  • Analysis of regulatory-approved therapies targeting SMN protein expression.
  • Examination of emerging SMA phenotypes and demographic data in the context of new treatments.

Main Results:

  • Three distinct therapies that enhance SMN expression have been approved, with others in clinical development.
  • These new treatments are redefining the standard of care for SMA globally.
  • Improved patient survival has led to the identification of novel SMA phenotypes and updated demographic profiles.

Conclusions:

  • The landscape of SMA care is rapidly changing due to the introduction of disease-modifying therapies.
  • Ongoing research and clinical development continue to offer new hope for individuals with SMA.
  • The long-term impact of these therapies on SMA phenotypes and patient outcomes requires continued investigation.