Neuromuscular disease: Difference between revisions
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Lukelahood (talk | contribs) CNS disorders are not considered to be neuromuscular diseases (other than the anterior horn cells/LMN, which can be classified into PNS) |
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A '''neuromuscular disease''' is any [[disease]] affecting the [[peripheral nervous system]] (PNS),{{efn|name=CNS|[[Lower motor neuron]]s originate in the [[Anterior grey column|anterior horn]] of the spinal cord, a part of the [[central nervous system]]. However, the anterior horn can be classified as part of the PNS. Diseases that affect the anterior horn are classified as as neuromuscular.}} the [[neuromuscular junction]], or [[skeletal muscle]], all of which are components of the [[motor unit]].<ref name="Katirji2014TextbookClinicalAssessment">{{cite book |last1=Katirji |first1=Bashar |chapter=Clinical Assessment in Neuromuscular Disorders|editor1-last=Katirji |editor1-first=Bashar |editor2-last=Kaminski |editor2-first=Henry J. |editor3-last=Ruff |editor3-first=Robert L. |title=Neuromuscular disorders in clinical practice |date=2014 |location=New York |isbn=978-1-4614-6567-6 |edition=Second}}</ref> Damage to any of these structures can cause [[muscle atrophy]] and weakness. Issues with [[sensation]] can also occur. |
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'''Neuromuscular disease''' is a broad term that encompasses many [[disease]]s and ailments that impair the functioning of the [[muscles]], either directly, being [[pathologies]] of the voluntary [[muscle]], or indirectly, being pathologies of [[motor nerve]]s or [[neuromuscular junction]]s.<ref name=nih/><ref name=pmid12754327>{{cite journal |doi=10.1136/jnnp.74.suppl_2.ii32 |pmid=12754327 |pmc=1765619 |title=The Neuromuscular Junction Disorders |journal=Journal of Neurology, Neurosurgery & Psychiatry |volume=74 |issue=90002 |pages=ii32–ii37 |year=2003 |last1=Hill |first1=M }}</ref> |
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Neuromuscular diseases can be acquired or [[genetic disease|genetic]], and thus inheritable. Causes include nerve or muscle [[degenerative disease|degeneration]], [[autoimmunity]], [[toxin]]s, [[medication]]s, [[malnutrition]], [[metabolic disorder|metabolic derangement]]s, [[hormone imbalance]]s, [[infection]], [[Nerve compression syndrome|nerve compression/entrapment]], [[ischemia|comprised blood supply]], and [[trauma]].<ref name="Katirji2014Textbook">{{cite book |editor1-last=Katirji |editor1-first=Bashar |editor2-last=Kaminski |editor2-first=Henry J. |editor3-last=Ruff |editor3-first=Robert L. |title=Neuromuscular disorders in clinical practice |date=2014 |location=New York |isbn=978-1-4614-6567-6 |edition=Second}}</ref> |
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== Signs and symptoms == |
== Signs and symptoms == |
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Neuromuscular disease can be caused by [[autoimmune]] disorders,<ref name=pmid22379454>{{cite journal |doi=10.2174/157015911796558000 |pmid=22379454 |pmc=3151594 |title=Autoimmune Neuromuscular Disorders |journal=Current Neuropharmacology |volume=9 |issue=3 |pages=400–8 |year=2011 |last1=Kraker |first1=Jessica |last2=a. Zivkovic |first2=Sasa }}</ref> genetic/hereditary disorders<ref name=nih/> and some forms of the collagen disorder [[Ehlers–Danlos Syndrome]],<ref>{{cite journal |doi=10.1002/ana.21643 |pmid=19557868 |title=Neuromuscular involvement in various types of Ehlers-Danlos syndrome |journal=Annals of Neurology |volume=65 |issue=6 |pages=687–97 |year=2009 |last1=Voermans |first1=Nicol C |last2=Van Alfen |first2=Nens |last3=Pillen |first3=Sigrid |last4=Lammens |first4=Martin |last5=Schalkwijk |first5=Joost |last6=Zwarts |first6=Machiel J |last7=Van Rooij |first7=Iris A |last8=Hamel |first8=Ben C. J |last9=Van Engelen |first9=Baziel G }}</ref> exposure to environmental chemicals and poisoning which includes [[heavy metal poisoning]].<ref name="practical">{{Cite book|url=https://books.google.com/books?id=ecx9BwAAQBAJ|title=Neuromuscular Diseases: A Practical Approach to Diagnosis and Management|last=Swash|first=Michael|last2=Schwartz|first2=Martin S.|date=2013-03-14|publisher=Springer Science & Business Media|page=86,196|isbn=9781447138341|language=en}}</ref> The failure of the electrical insulation surrounding nerves, the [[myelin]], is seen in certain deficiency diseases, such as the failure of the body's system for absorbing [[vitamin B-12]]<ref name=practical/> |
Neuromuscular disease can be caused by [[autoimmune]] disorders,<ref name=pmid22379454>{{cite journal |doi=10.2174/157015911796558000 |pmid=22379454 |pmc=3151594 |title=Autoimmune Neuromuscular Disorders |journal=Current Neuropharmacology |volume=9 |issue=3 |pages=400–8 |year=2011 |last1=Kraker |first1=Jessica |last2=a. Zivkovic |first2=Sasa }}</ref> genetic/hereditary disorders<ref name=nih/> and some forms of the collagen disorder [[Ehlers–Danlos Syndrome]],<ref>{{cite journal |doi=10.1002/ana.21643 |pmid=19557868 |title=Neuromuscular involvement in various types of Ehlers-Danlos syndrome |journal=Annals of Neurology |volume=65 |issue=6 |pages=687–97 |year=2009 |last1=Voermans |first1=Nicol C |last2=Van Alfen |first2=Nens |last3=Pillen |first3=Sigrid |last4=Lammens |first4=Martin |last5=Schalkwijk |first5=Joost |last6=Zwarts |first6=Machiel J |last7=Van Rooij |first7=Iris A |last8=Hamel |first8=Ben C. J |last9=Van Engelen |first9=Baziel G }}</ref> exposure to environmental chemicals and poisoning which includes [[heavy metal poisoning]].<ref name="practical">{{Cite book|url=https://books.google.com/books?id=ecx9BwAAQBAJ|title=Neuromuscular Diseases: A Practical Approach to Diagnosis and Management|last=Swash|first=Michael|last2=Schwartz|first2=Martin S.|date=2013-03-14|publisher=Springer Science & Business Media|page=86,196|isbn=9781447138341|language=en}}</ref> The failure of the electrical insulation surrounding nerves, the [[myelin]], is seen in certain deficiency diseases, such as the failure of the body's system for absorbing [[vitamin B-12]]<ref name=practical/> |
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Diseases of the [[motor end plate]] include [[myasthenia gravis]], a form of muscle weakness due to [[antibody|antibodies]] against [[acetylcholine]] receptor,<ref>{{EMedicine|article|1171206|Myasthenia Gravis}}</ref> and its related condition [[Lambert-Eaton myasthenic syndrome]] (LEMS).<ref>{{EMedicine|article|1170810|Lambert-Eaton Myasthenic Syndrome (LEMS)}}</ref> [[Tetanus]] and [[botulism]] are [[bacterial infection]]s in which bacterial toxins cause increased or decreased muscle tone, respectively.<ref>{{Cite book|url=https://books.google.com/books?id=5NbsAwAAQBAJ|title=Robbins & Cotran Pathologic Basis of Disease|last=Kumar|first=Vinay|last2=Abbas|first2=Abul K.|last3=Aster|first3=Jon C.|date=2014-09-05|publisher=Elsevier Health Sciences|page=382|isbn=9780323296359|language=en}}</ref> [[Muscular dystrophies]], including [[Duchenne muscular dystrophy|Duchenne's]] and [[Becker's muscular dystrophy|Becker's]], are a large group of diseases, many of them [[hereditary]] or resulting from genetic [[mutation]]s, where the muscle integrity is disrupted, they lead to progressive loss of strength and decreased life span.<ref>{{Cite web|url=http://www.ninds.nih.gov/disorders/md/md.htm|title=Muscular Dystrophy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)|website=www.ninds.nih.gov|access-date=2016-04-24}}</ref> |
Diseases of the [[motor end plate]] include [[myasthenia gravis]], a form of muscle weakness due to [[antibody|antibodies]] against [[acetylcholine]] receptor,<ref>{{EMedicine|article|1171206|Myasthenia Gravis}}</ref><ref name=pmid12754327>{{cite journal |doi=10.1136/jnnp.74.suppl_2.ii32 |pmid=12754327 |pmc=1765619 |title=The Neuromuscular Junction Disorders |journal=Journal of Neurology, Neurosurgery & Psychiatry |volume=74 |issue=90002 |pages=ii32–ii37 |year=2003 |last1=Hill |first1=M }}</ref> and its related condition [[Lambert-Eaton myasthenic syndrome]] (LEMS).<ref>{{EMedicine|article|1170810|Lambert-Eaton Myasthenic Syndrome (LEMS)}}</ref> [[Tetanus]] and [[botulism]] are [[bacterial infection]]s in which bacterial toxins cause increased or decreased muscle tone, respectively.<ref>{{Cite book|url=https://books.google.com/books?id=5NbsAwAAQBAJ|title=Robbins & Cotran Pathologic Basis of Disease|last=Kumar|first=Vinay|last2=Abbas|first2=Abul K.|last3=Aster|first3=Jon C.|date=2014-09-05|publisher=Elsevier Health Sciences|page=382|isbn=9780323296359|language=en}}</ref> [[Muscular dystrophies]], including [[Duchenne muscular dystrophy|Duchenne's]] and [[Becker's muscular dystrophy|Becker's]], are a large group of diseases, many of them [[hereditary]] or resulting from genetic [[mutation]]s, where the muscle integrity is disrupted, they lead to progressive loss of strength and decreased life span.<ref>{{Cite web|url=http://www.ninds.nih.gov/disorders/md/md.htm|title=Muscular Dystrophy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)|website=www.ninds.nih.gov|access-date=2016-04-24}}</ref> |
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Further causes of neuromuscular diseases are : |
Further causes of neuromuscular diseases are : |
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* [[Motor neuron diseases]] |
* [[Motor neuron diseases]] |
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* [[Neuromuscular medicine]] |
* [[Neuromuscular medicine]] |
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==Notes== |
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{{notelist|32em}} |
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==References== |
==References== |
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Revision as of 22:35, 5 January 2022
| 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 junction, or skeletal muscle, 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, and thus inheritable. Causes include nerve or muscle degeneration, autoimmunity, toxins, medications, malnutrition, metabolic derangements, hormone imbalances, infection, nerve compression/entrapment, comprised blood supply, and trauma.[5]
Signs and symptoms
Symptoms of neuromuscular disease may include the following:[2][6]
- Numbness
- Paresthesia
- Muscle weakness
- Muscle atrophy
- Myalgia (muscle pain)
- Fasciculations (muscle twitches)
Causes
Neuromuscular disease can be caused by autoimmune disorders,[1] genetic/hereditary disorders[2] and some forms of the collagen disorder Ehlers–Danlos Syndrome,[7] exposure to environmental chemicals and poisoning which includes heavy metal poisoning.[3] The failure of the electrical insulation surrounding nerves, the myelin, is seen in certain deficiency diseases, such as the failure of the body's system for absorbing vitamin B-12[3]
Diseases of the motor end plate include myasthenia gravis, a form of muscle weakness due to antibodies against acetylcholine receptor,[8][9] and its related condition Lambert-Eaton myasthenic syndrome (LEMS).[10] Tetanus and botulism are bacterial infections in which bacterial toxins cause increased or decreased muscle tone, respectively.[11] Muscular dystrophies, including Duchenne's and Becker's, are a large group of diseases, many of them hereditary or resulting from genetic mutations, where the muscle integrity is disrupted, they lead to progressive loss of strength and decreased life span.[12]
Further causes of neuromuscular diseases are :
Inflammatory muscle disorders
- Polymyalgia rheumatica (or "muscle rheumatism") is an inflammatory condition that mainly occurs in the elderly; it is associated with giant-cell arteritis(It often responds to prednisolone).[13]
- Polymyositis is an autoimmune condition in which the muscle is affected.[14]
- Rhabdomyolysis is the breakdown of muscular tissue due to any cause.[15]
Tumors
- Smooth muscle: leiomyoma (benign)[16]
- Striated muscle: rhabdomyoma (benign)[17]
Diagnosis
Diagnostic procedures that may reveal muscular disorders include direct clinical observations. This usually starts with the observation of bulk, possible atrophy or loss of muscle tone. Neuromuscular disease can also be diagnosed by testing the levels of various chemicals and antigens in the blood, and using electrodiagnostic medicine tests[18] including electromyography[19] (measuring electrical activity in muscles) and nerve conduction studies.[20]
In neuromuscular disease evaluation, it is important to perform musculoskeletal and neurologic examinations. Genetic testing is an important part of diagnosing inherited neuromuscular conditions.[18]
Prognosis
Prognosis and management vary by disease.[citation needed]
See also
Notes
- ^ Lower motor neurons originate in the anterior horn of the spinal cord, a part of the central nervous system. However, the anterior horn can be classified as part of the PNS. Diseases that affect the anterior horn are classified as as neuromuscular.
References
- ^ a b Kraker, Jessica; a. Zivkovic, Sasa (2011). "Autoimmune Neuromuscular Disorders". Current Neuropharmacology. 9 (3): 400–8. doi:10.2174/157015911796558000. PMC 3151594. PMID 22379454.
- ^ a b c d "Neuromuscular Disorders: MedlinePlus". www.nlm.nih.gov. Retrieved 2016-04-24.
- ^ a b c Swash, Michael; Schwartz, Martin S. (2013-03-14). Neuromuscular Diseases: A Practical Approach to Diagnosis and Management. Springer Science & Business Media. p. 86,196. ISBN 9781447138341.
- ^ 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) - ^ 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) - ^ "Myopathy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". www.ninds.nih.gov. Archived from the original on 2016-04-27. Retrieved 2016-04-24.
- ^ Voermans, Nicol C; Van Alfen, Nens; Pillen, Sigrid; Lammens, Martin; Schalkwijk, Joost; Zwarts, Machiel J; Van Rooij, Iris A; Hamel, Ben C. J; Van Engelen, Baziel G (2009). "Neuromuscular involvement in various types of Ehlers-Danlos syndrome". Annals of Neurology. 65 (6): 687–97. doi:10.1002/ana.21643. PMID 19557868.
- ^ Myasthenia Gravis at eMedicine
- ^ Hill, M (2003). "The Neuromuscular Junction Disorders". Journal of Neurology, Neurosurgery & Psychiatry. 74 (90002): ii32–ii37. doi:10.1136/jnnp.74.suppl_2.ii32. PMC 1765619. PMID 12754327.
- ^ Lambert-Eaton Myasthenic Syndrome (LEMS) at eMedicine
- ^ Kumar, Vinay; Abbas, Abul K.; Aster, Jon C. (2014-09-05). Robbins & Cotran Pathologic Basis of Disease. Elsevier Health Sciences. p. 382. ISBN 9780323296359.
- ^ "Muscular Dystrophy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". www.ninds.nih.gov. Retrieved 2016-04-24.
- ^ Liaison, Janet Austin, Office of Communications and Public. "Polymyalgia Rheumatica and Giant Cell Arteritis". www.niams.nih.gov. Archived from the original on 2016-05-25. Retrieved 2016-04-24.
{{cite web}}: CS1 maint: multiple names: authors list (link) - ^ Polymyositis at eMedicine
- ^ MedlinePlus Encyclopedia: Rhabdomyolysis
- ^ Leiomyoma at eMedicine
- ^ Rhabdomyomas at eMedicine
- ^ a b McDonald, Craig M (2012). "Clinical Approach to the Diagnostic Evaluation of Hereditary and Acquired Neuromuscular Diseases". Physical Medicine and Rehabilitation Clinics of North America. 23 (3): 495–563. doi:10.1016/j.pmr.2012.06.011. PMC 3482409. PMID 22938875.
- ^ Darras, Basil T.; Jr, H. Royden Jones, Jr; Ryan, Monique M.; Vivo, Darryl C. De (2014-12-03). Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. Elsevier. p. 488. ISBN 978-0124171275.
{{cite book}}: CS1 maint: multiple names: authors list (link) - ^ Electromyography and Nerve Conduction Studies at eMedicine
Further reading
- Wokke, John H. J.; Doorn, Pieter A. van; Hoogendijk, Jessica E.; Visser, Marianne de (2013-03-07). Neuromuscular Disease: A Case-Based Approach. Cambridge University Press. ISBN 9781107328044.
- Ambrosino, N; Carpene, N; Gherardi, M (2009). "Chronic respiratory care for neuromuscular diseases in adults". European Respiratory Journal. 34 (2): 444–451. doi:10.1183/09031936.00182208. PMID 19648521.
External links
Scholia has a topic profile for Neuromuscular disease.