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Neuromuscular disease
| Neuromuscular disease | |
|---|---|
 | |
| Congenital nemaline myopathy (neuromuscular disorder) | |
| Specialty | Neurology, neuromuscular medicine, physical medicine and rehabilitation |
| Causes | Autoimmune disorders,[1] genetic disorders,[2] environmental factors[3] |
| Diagnostic method | Muscle electrophysiology tests, genetic testing |
| Treatment | Depends 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]
- ^ Cite error: The named reference
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practicalwas invoked but never defined (see the help page). - ^ 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) - ^ "GeneTable of Neuromuscular Disorders".
- ^ 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.
- ^ 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.
- ^ 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.
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