Back اضطراب عصبي عضلي Arabic Malaltia neuromuscular Catalan Neuromuskuläre Erkrankung German Maladie neuromusculaire French Malattia neuromuscolare Italian 신경근육질환 Korean Spierziekte Dutch Doença neuromuscular Portuguese Category:Muscle diseases SIMPLE Neuromišićne bolesti Serbian

Neuromuscular disease

Neuromuscular disease
Congenital nemaline myopathy (neuromuscular disorder)
SpecialtyNeurology, neuromuscular medicine, physical medicine and rehabilitation
CausesAutoimmune disorders,[1] genetic disorders,[2] environmental factors[3]
Diagnostic methodMuscle electrophysiology tests, genetic testing
TreatmentDepends on the disorder; many currently have no cure[2]

A neuromuscular disease is any disease affecting the peripheral nervous system (PNS),[a] the neuromuscular junctions, or skeletal muscles, all of which are components of the motor unit.[4] Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur.

Neuromuscular diseases can be acquired or genetic. Mutations of more than 650 genes have shown to be causes of neuromuscular diseases.[5][6][7] Other causes include nerve or muscle degeneration, autoimmunity, toxins, medications, malnutrition, metabolic derangements, hormone imbalances, infection, nerve compression/entrapment, comprised blood supply, and trauma.[8]

  1. ^ Cite error: The named reference pmid22379454 was invoked but never defined (see the help page).
  2. ^ a b Cite error: The named reference nih was invoked but never defined (see the help page).
  3. ^ Cite error: The named reference practical was invoked but never defined (see the help page).
  4. ^ Katirji, Bashar (2014). "Clinical Assessment in Neuromuscular Disorders". In Katirji, Bashar; Kaminski, Henry J.; Ruff, Robert L. (eds.). Neuromuscular disorders in clinical practice (Second ed.). New York. ISBN 978-1-4614-6567-6.{{cite book}}: CS1 maint: location missing publisher (link)
  5. ^ "GeneTable of Neuromuscular Disorders".
  6. ^ Dowling, JJ; Weihl, CC; Spencer, MJ (November 2021). "Molecular and cellular basis of genetically inherited skeletal muscle disorders". Nature Reviews. Molecular Cell Biology. 22 (11): 713–732. doi:10.1038/s41580-021-00389-z. PMC 9686310. PMID 34257452. S2CID 235822532.
  7. ^ Cohen, Enzo; Bonne, Gisèle; Rivier, François; Hamroun, Dalil (December 2021). "The 2022 version of the gene table of neuromuscular disorders (nuclear genome)". Neuromuscular Disorders. 31 (12): 1313–1357. doi:10.1016/j.nmd.2021.11.004.
  8. ^ Katirji, Bashar; Kaminski, Henry J.; Ruff, Robert L., eds. (2014). Neuromuscular disorders in clinical practice (Second ed.). New York. ISBN 978-1-4614-6567-6.{{cite book}}: CS1 maint: location missing publisher (link)


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