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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

Myasthenia Gravis: Overview and Treatment

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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

Myasthenia Gravis: Diagnostic Tests

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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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Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
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[Spinal muscular atrophy].

Pascal Martin1, Veronka Horber2, Joohyun Park3

  • 1Zentrum für Neurologie, Abteilung Neurologie mit Schwerpunkt Epileptologie, Hertie-Institut für klinische Hirnforschung, Universitätsklinikum Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Deutschland. pascal.martin@med.uni-tuebingen.de.

Der Nervenarzt
|January 17, 2022
PubMed
Summary
This summary is machine-generated.

Spinal muscular atrophy (SMA), a genetic motor neuron disease, is now treatable with gene-modifying drugs approved since 2017. These therapies offer new hope, but their long-term impact on the disease course requires further evaluation.

Keywords:
Disease courseNusinersenOnasemnogene abeparvovecRisdiplamSMN2 gene

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder.
  • It results from mutations in the SMN1 gene, causing progressive degeneration of motor neurons.
  • Characterized by muscle weakness and loss of motor skills, SMA affects respiratory and bulbar muscles.

Purpose of the Study:

  • To review the advancements in SMA treatment since 2017.
  • To discuss the impact of newly approved gene-modifying therapies on SMA.
  • To explore emerging challenges and future directions in SMA management.

Main Methods:

  • Review of recent clinical data and therapeutic approvals for SMA.
  • Analysis of the mechanism of action for new SMA drugs.
  • Discussion of the evolving natural history of SMA with new treatments.

Main Results:

  • Three disease-modifying drugs (nusinersen, onasemnogene abeparvovec, risdiplam) have been approved since 2017.
  • These therapies target gene expression, altering the course of SMA.
  • Significant changes in the natural progression of SMA are observed.

Conclusions:

  • The treatment landscape for SMA has been revolutionized by gene-modifying therapies.
  • Long-term efficacy and optimal use of these treatments are under ongoing assessment.
  • New challenges and research avenues are emerging in SMA care.