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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 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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Bone and Spinal Muscular Atrophy.

Silvia Vai1, Maria Luisa Bianchi1, Isabella Moroni2

  • 1Experimental Laboratory for Children's Bone Metabolism Research, Bone Metabolism Unit, Institute Auxologico Italiano IRCCS, Milan, Italy.

Bone
|June 10, 2015
PubMed
Summary
This summary is machine-generated.

Spinal Muscular Atrophy (SMA) patients show poor bone health, including low bone density and increased fractures. Early monitoring for osteopenia and osteoporosis is crucial for children with SMA.

Keywords:
25-hydroxyvitamin DBone mineral densityFracturesOsteoporosisSpinal Muscular Atrophy

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Area of Science:

  • Pediatric Endocrinology
  • Neuromuscular Disorders
  • Bone Metabolism

Background:

  • Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease causing muscle atrophy.
  • Bone health in pediatric SMA populations remains under-investigated.
  • Understanding bone status is critical for comprehensive SMA patient care.

Purpose of the Study:

  • To assess bone metabolism, bone mineral density (BMD), and fracture incidence in children with SMA types 2 and 3.
  • To identify potential risk factors for bone derangements in this population.
  • To evaluate the prevalence of asymptomatic fractures in young SMA patients.

Main Methods:

  • Evaluated 30 children (15-171 months) with SMA types 2 and 3.
  • Measured bone resorption markers (CTx) and 25-OH vitamin D levels.
  • Assessed lumbar spine bone mineral apparent density (BMAD) Z-scores and analyzed fracture data from clinical records and spine X-rays.

Main Results:

  • 60% of children had elevated CTx levels, indicating increased bone resorption.
  • 50% of children had low lumbar spine BMAD Z-scores (<-1.5).
  • 9 previously undiagnosed vertebral fractures were found in 7 children; 4 children had peripheral fractures.

Conclusions:

  • Children with SMA exhibit reduced bone density, low vitamin D, and high bone turnover.
  • Asymptomatic vertebral and peripheral fractures are prevalent, even in young SMA patients.
  • SMA patients are at significant risk for osteopenia, osteoporosis, and fractures, necessitating early intervention.