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Disorders of the Neuromuscular Junction

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Clues for Differential Diagnosis of Neuromuscular Disorders

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Abstract

Neuromuscular junction is a type of chemical synapse between motor neurons and skeletal muscles. All abnormalities related to the neuromuscular junction cause the myasthenic syndromes. Genetic mutations, autoimmune or paraneoplastic antibodies and toxins are etiological factors that impair the function of neromuscular junction. Clinical history of the patient, neurological examination, antibody screening and electrophysiological tests are usually sufficient for diognosis of neuromuscular junction disorders therefore muscle or nerve biopsy examination is almost never required. However, muscle biopsy examination may occasionally be required in some rare cases or for the differential diagnosis. Histopathological findings that can be seen in neuromuscular junction diseases are minimal and nonspecific and, the most common alteration is type 2 myofiber atrophy. This chapter includes the clinical manifestations, diagnosis, treatment and the case examples of muscle biopsy of the most common neuromuscular junction disorders.

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Authors and Affiliations

  1. Department of Neurology, Dokuz Eylül University School of Medicine, İzmir, Turkey

    Ihsan Sukru Sengun

  2. Department of Neurology, School of Medicine, Bezmialem Vakif University, İstanbul, Turkey

    Pinar Ozcelik

  3. Pathology Department, Izmir Democracy University, School of Medicine, Buca Seyfi Demirsoy Training and Research Hospital, Izmir, Türkiye

    Gulden Diniz

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  1. Ihsan Sukru Sengun
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Correspondence to Ihsan Sukru Sengun .

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  1. Pathology Department, Izmir Democracy University, School of Medicine, Buca Seyfi Demirsoy Training and Research Hospital, Izmir, Türkiye

    Gulden Diniz

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Sengun, I.S., Ozcelik, P., Diniz, G. (2023). Disorders of the Neuromuscular Junction. In: Diniz, G. (eds) Clues for Differential Diagnosis of Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-031-33924-0_11

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