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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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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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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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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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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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Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
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Related Experiment Video

Updated: Jun 25, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Neurocognitive disorder in Myotonic dystrophy type 1.

Stefan Winblad1, Olöf Eliasdottir2, Sara Nordström2

  • 1Icon Lab, Department of Psychology, University of Gothenburg, Gothenburg, Sweden.

Heliyon
|May 23, 2024
PubMed
Summary

Cognitive decline is uncommon in adult Myotonic dystrophy type 1 (DM1) patients. However, older individuals with late-onset DM1 show more cognitive impairment, suggesting a need for further research in this specific group.

Keywords:
CognitionDementiaMontreal cognitive assessmentMyotonic dystrophy type 1Neurocognitive disorder

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Area of Science:

  • Neurology
  • Genetics
  • Cognitive Science

Background:

  • Myotonic dystrophy type 1 (DM1) is linked to cognitive deficits and aging.
  • The progression and extent of cognitive decline in DM1 are not well understood.

Purpose of the Study:

  • To investigate the prevalence of neurocognitive disorders (mild cognitive impairment and dementia) in adult DM1 patients.
  • To assess cognitive function across different DM1 onset types.

Main Methods:

  • A screening of 128 adult DM1 patients using the Montreal Cognitive Assessment (MoCA).
  • Data collection included demographic and clinical information.
  • Patients were categorized by DM1 onset: childhood, juvenile, adult, and late onset.

Main Results:

  • Neurocognitive disorder signs were infrequent overall.
  • 23.8% of late-onset DM1 patients (over 60) scored below the MoCA threshold.
  • Late-onset DM1 patients performed significantly worse than adult-onset patients.
  • Age at examination showed a weak negative correlation with MoCA scores.

Conclusions:

  • Adult DM1 patients generally exhibit a low prevalence of severe neurocognitive disorders.
  • Late-onset DM1 warrants further investigation due to observed cognitive differences.
  • Longitudinal studies with larger samples are recommended to explore DM1 cognitive progression.