Neuromuscular disease

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Neuromuscular disease
Congenital nemaline myopathy.jpg
Congenital nemaline myopathy (neuromuscular disorder)
SpecialtyNeurology, 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]

Neuromuscular disease is a broad term that encompasses many diseases and ailments that impair the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions.[2][4]

Neuromuscular diseases are those that affect the muscles and their direct nervous system control; problems with central nervous control can cause either spasticity or some degree of paralysis (from both lower and upper motor neuron disorders), depending on the location and the nature of the problem. Some examples of central disorders include cerebrovascular accident, Parkinson's disease, multiple sclerosis, Huntington's disease and Creutzfeldt–Jakob disease. Spinal muscular atrophies are disorders of lower motor neuron while amyotrophic lateral sclerosis is a mixed upper and lower motor neuron condition.[medical citation needed]

Signs and symptoms[edit]

Symptoms of neuromuscular disease may include the following:[2][5]


Neuromuscular disease can be caused by autoimmune disorders,[1] genetic/hereditary disorders[2] and some forms of the collagen disorder Ehlers–Danlos Syndrome,[6] 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,[7] and its related condition Lambert-Eaton myasthenic syndrome (LEMS).[8] Tetanus and botulism are bacterial infections in which bacterial toxins cause increased or decreased muscle tone, respectively.[9] 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.[10]

Further causes of neuromuscular diseases are :


Inflammatory muscle disorders



Nerve conduction velocity (study)

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[16] including electromyography[17] (measuring electrical activity in muscles) and nerve conduction studies.[18]

In neuromuscular disease evaluation, it is important to perform musculoskeletal and neurologic examinations. Genetic testing is an important part of diagnosing inherited neuromuscular conditions.[16]


Prognosis and management vary by disease.[citation needed]

See also[edit]


  1. ^ 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.
  2. ^ a b c d e "Neuromuscular Disorders: MedlinePlus". Retrieved 2016-04-24.
  3. ^ 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.
  4. ^ 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.
  5. ^ "Myopathy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". Archived from the original on 2016-04-27. Retrieved 2016-04-24.
  6. ^ 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.
  7. ^ Myasthenia Gravis at eMedicine
  8. ^ Lambert-Eaton Myasthenic Syndrome (LEMS) at eMedicine
  9. ^ Kumar, Vinay; Abbas, Abul K.; Aster, Jon C. (2014-09-05). Robbins & Cotran Pathologic Basis of Disease. Elsevier Health Sciences. p. 382. ISBN 9780323296359.
  10. ^ "Muscular Dystrophy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". Retrieved 2016-04-24.
  11. ^ Liaison, Janet Austin, Office of Communications and Public. "Polymyalgia Rheumatica and Giant Cell Arteritis". Archived from the original on 2016-05-25. Retrieved 2016-04-24.
  12. ^ Polymyositis at eMedicine
  13. ^ MedlinePlus Encyclopedia: Rhabdomyolysis
  14. ^ Leiomyoma at eMedicine
  15. ^ Rhabdomyomas at eMedicine
  16. ^ 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.
  17. ^ 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.
  18. ^ Electromyography and Nerve Conduction Studies at eMedicine

Further reading[edit]

External links[edit]

External resources