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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
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Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
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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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Lysosomal Hydrolases

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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Myasthenia Gravis: Diagnostic Tests

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Chemical Synapses

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Myopathy in Gaucher disease.

Li-Kai Tsai1, Yin-Hsiu Chien, Chih-Chao Yang

  • 1Department of Neurology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

Journal of Inherited Metabolic Disease
|January 16, 2008
PubMed
Summary

Gaucher disease, a lysosomal storage disorder, can cause muscle weakness. This study suggests Gaucher disease may be associated with myopathy, with some patients showing improved strength after enzyme replacement therapy.

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Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Gaucher disease is a genetic lysosomal storage disorder due to glucocerebrosidase deficiency.
  • Commonly presents with organomegaly, anemia, and skeletal issues.
  • Neurological symptoms like parkinsonism and seizures are recognized, but muscle weakness etiology is unclear.

Purpose of the Study:

  • To investigate the association between Gaucher disease and myopathy.
  • To characterize muscle weakness in Gaucher patients.

Main Methods:

  • Prospective investigation of seven Gaucher disease patients.
  • Clinical assessment of muscle strength and fatigue.
  • Needle electromyography and muscle biopsy in select patients.
  • Monitoring of patients receiving enzyme replacement therapy (imiglucerase).

Main Results:

  • Four of seven patients exhibited proximal-predominant symmetrical muscle weakness.
  • Three patients reported insidious onset of nonprogressive weakness and fatigue.
  • Electromyography showed small, brief polyphasic waves; biopsy revealed type II fiber atrophy.
  • Muscle strength appeared to improve in three patients after two years of imiglucerase therapy.

Conclusions:

  • Gaucher disease may be linked to myopathy.
  • Muscle weakness is a potential clinical manifestation in Gaucher disease.
  • Enzyme replacement therapy may offer benefits for Gaucher-associated myopathy.