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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.
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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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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The site of chemical communication between a motor neuron and a muscle fiber is called the neuromuscular junction (NMJ). The end of the motor neuron at the NMJ divides into a cluster of synaptic end bulbs. The cytoplasm of these bulbs consists of synaptic vesicles enclosing acetylcholine molecules, the principal neurotransmitter released at the NMJ. The region opposite the synaptic bulb that ends in the muscle fiber is called the motor end plate, which has acetylcholine receptors. Within the...
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Pediatric neuromuscular channelopathies.

Vinojini Vivekanandam1, Pinki Munot2, Dipa L Jayaseelan1

  • 1Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.

Handbook of Clinical Neurology
|August 22, 2024
PubMed
Summary

Pediatric skeletal muscle channelopathies, rare inherited disorders causing episodic stiffness and weakness, require early diagnosis for effective treatment. Understanding distinct features aids in managing these conditions and improving quality of life.

Keywords:
ChannelopathiesChloride channelMyotoniaPediatric channelopathiesPeriodic paralysisSodium channel

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Pediatric skeletal muscle channelopathies are rare inherited disorders.
  • These conditions manifest as episodic muscle stiffness and weakness, leading to significant morbidity.
  • They encompass nondystrophic myotonias and periodic paralyses with diverse clinical presentations.

Purpose of the Study:

  • To outline the spectrum of pediatric skeletal muscle channelopathies.
  • To highlight key diagnostic features and phenotypic variability.
  • To emphasize the importance of early diagnosis and symptomatic treatment.

Main Methods:

  • Review of clinical features and genetic underpinnings of pediatric channelopathies.
  • Categorization into nondystrophic myotonias and periodic paralyses.
  • Emphasis on diagnostic criteria and phenotypic distinctions.

Main Results:

  • Nondystrophic myotonias include myotonia congenita, paramyotonia congenita, and sodium channel myotonia.
  • Periodic paralyses include hypokalemic and hyperkalemic periodic paralysis, and Andersen-Tawil syndrome.
  • Specific mutations in chloride and sodium channels are implicated, with some severe presentations noted.

Conclusions:

  • Distinct phenotypic features aid in diagnosing pediatric channelopathies.
  • Andersen-Tawil syndrome warrants cardiac evaluation due to arrhythmia risk.
  • Early, accurate diagnosis and symptomatic treatment are crucial for improving patient outcomes and quality of life.