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Related Concept Videos

Fatigue01:21

Fatigue

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Fatigue occurs when materials rupture under repeated or fluctuating loads, even at stress levels far below their static breaking strength. It typically results in brittle failure, even for ductile materials. It is a critical consideration in designing machines and structural components subjected to repetitive or varying loads. The nature of these loadings can range from fluctuating loads like unbalanced pump impellers causing vibrations to repeatedly bending a thin steel rod wire back and forth...
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Muscle fatigue refers to the decline in a muscle's ability to maintain the force of contraction after prolonged activity. It primarily stems from changes within muscle fibers. Even before experiencing muscle fatigue, one may feel tired and have the urge to stop the activity. This response, known as central fatigue, occurs due to changes in the central nervous system, namely the brain and spinal cord. While there is no single mechanism that induces fatigue, it may serve as a protective...
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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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Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
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Lysosomal Hydrolases01:22

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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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: Mar 22, 2026

The Treadmill Fatigue Test: A Simple, High-throughput Assay of Fatigue-like Behavior for the Mouse
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The Treadmill Fatigue Test: A Simple, High-throughput Assay of Fatigue-like Behavior for the Mouse

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Rethinking fatigue in Gaucher disease.

Y Chen Zion1, E Pappadopulos2, M Wajnrajch2

  • 1Hematology Department, Rambam Health Care Campus, HaAliya HaShniya St 8, Bat Galim, Haifa, Israel.

Orphanet Journal of Rare Diseases
|May 1, 2016
PubMed
Summary
This summary is machine-generated.

Gaucher disease (GD) patients prioritize fatigue management, but current guidelines lack specific assessments. Further research is needed for validated fatigue measures in GD care.

Keywords:
Enzyme replacement therapyFatigueGaucher diseasePatient care managementSigns and symptoms

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Area of Science:

  • Lysosomal storage diseases
  • Biochemistry
  • Genetics

Background:

  • Gaucher disease (GD) is a rare lysosomal storage disorder due to beta-glucocerebrosidase deficiency.
  • GD presents with diverse manifestations including visceral, hematologic, and bone issues, alongside significant chronic fatigue impacting quality of life.
  • Current GD management guidelines do not incorporate fatigue assessment or treatment goals.

Purpose of the Study:

  • To explore key considerations for addressing fatigue in Gaucher disease patients.
  • To highlight the discrepancy between patient-reported fatigue importance and physician focus on objective disease markers.

Main Methods:

  • Systematic literature search of PubMed for studies on fatigue in GD.
  • Exploratory survey of GD patients and physicians regarding fatigue perception and management.

Main Results:

  • 19 publications were reviewed, with 6 assessing fatigue, including 2 using specific instruments.
  • Patients with Type 1 GD reported fatigue as a higher priority than physicians, who focused on objective disease parameters.
  • Physicians emphasized objective measures like visceral and hematologic manifestations.

Conclusions:

  • Further investigation and in-office evaluation of fatigue in GD are essential.
  • Development of a reliable, validated, disease-specific fatigue instrument for GD is required.
  • Establishing criteria for clinically significant fatigue and incorporating objective assessment into routine monitoring is recommended.