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Related Concept Videos

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.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
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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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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

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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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Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

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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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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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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Updated: Jun 29, 2025

Functional Characterization of Endogenously Expressed Human RYR1 Variants
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PYROXD1-associated myopathy.

Matthew Selwyn D'Costa1, Enrico Bugiardini2, Ashirwad Merve3

  • 1Medicine, UCL, London, UK zchamdc@ucl.ac.uk.

BMJ Case Reports
|March 29, 2024
PubMed
Summary
This summary is machine-generated.

PYROXD1-associated myopathy, a rare limb-girdle muscular dystrophy, is detailed in two brothers. Advanced genetic sequencing and muscle MRI aided diagnosis, adding crucial data to this uncommon condition.

Keywords:
ethnic studiesgeneticsincidencemusculoskeletal and joint disordersneurology

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Area of Science:

  • Neuromuscular Disorders
  • Genetic Medicine
  • Histopathology

Background:

  • PYROXD1-associated myopathy is a rare limb-girdle muscular dystrophy (LGMD) with limited reported cases.
  • The precise role of PYROXD1 in LGMD pathophysiology is not fully understood.

Observation:

  • Two brothers presented with decades of progressive upper and lower limb weakness.
  • Clinical presentation and histopathological findings were meticulously documented.

Findings:

  • Recent genetic sequencing facilitated the diagnosis of this previously unclassified myopathy.
  • Muscle MRI proved valuable in disease identification and guiding targeted muscle biopsy.

Implications:

  • This case expands the understanding of PYROXD1-associated myopathy with detailed clinical and histopathological data.
  • Advances in diagnostic technologies are crucial for classifying rare myopathies.
  • Improved diagnostic approaches enhance the quality of samples for accurate classification.