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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
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...
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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 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 Synapses01:26

Chemical Synapses

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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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Spinal Muscular Atrophy.

Stefan Nicolau1, Megan A Waldrop2, Anne M Connolly2

  • 1Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH.

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|April 24, 2021
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Summary
This summary is machine-generated.

Spinal muscular atrophy (SMA) treatments show promise, with newborn screening enabling earlier diagnosis. While new therapies improve outcomes, long-term benefits and supportive care remain crucial for managing this common childhood neuromuscular disorder.

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Spinal muscular atrophy (SMA) is a prevalent and severe neuromuscular disorder in children.
  • High rates of morbidity and mortality are associated with SMA.
  • Recent advancements have introduced three disease-modifying therapies for SMA.

Purpose of the Study:

  • To review the current landscape of SMA treatments.
  • To highlight the impact of newborn screening on early diagnosis and outcomes.
  • To discuss ongoing research and future directions in SMA management.

Main Methods:

  • Literature review of recent clinical trials and therapeutic developments in SMA.
  • Analysis of the role of newborn screening programs in early SMA detection.
  • Discussion of current supportive care strategies and emerging research.

Main Results:

  • Three novel disease-modifying treatments (nusinersen, onasemnogene abeparvovec, risdiplam) have been approved.
  • These treatments demonstrate safety and efficacy, though long-term data are pending.
  • Newborn screening facilitates earlier diagnosis and treatment initiation, leading to improved outcomes.

Conclusions:

  • Current SMA therapies offer significant advancements but require further long-term evaluation.
  • Early diagnosis through newborn screening is critical for optimizing patient outcomes.
  • Future research focuses on enhancing gene therapy, exploring novel targets, and combination therapies for SMA.