Dystrophic Myotonia

Authors

  • R.K. Shiraliyeva Azerbaijan State Advanced Training Institute for Doctors named after A.Aliyev, Department of Neurology and Clinical Neurophysiology, Baku, Azerbaijan
  • U.A. Asadova Azerbaijan State Advanced Training Institute for Doctors named after A.Aliyev, Department of Neurology and Clinical Neurophysiology, Baku, Azerbaijan
  • S.R. Mirzazade Republican Diagnostic Centre, Baku, Azerbaijan

DOI:

https://doi.org/10.61788/njn.v2i24.09

Keywords:

dystrophic myotonia, genetics, respiratory failure, family tree, quality of life

Abstract

Dystrophic myotonia type 1 (DM1) is a genetic neuromuscular disease, that affects several body systems. The clinical phenotype of patients with DM1 is highly variable, limiting early diagnosis and treatment. In the present study, we reported a 45-year-old female patient with DM1 with dyspnea as one of the prominent clinical manifestations, reviewed her family history, and reviewed the relevant literature. As a result, it turned out that the ability to determine the type and type of neuromuscular disease based on a correctly collected anamnesis, clinical and paraclinical research methods can reduce the time and costs of genetic research, and the awareness of non-neurological medical specialists about this disease contributes to early diagnosis, timely assistance and, thereby, improving the patient’s quality of life.

References

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Published

31.12.2023

How to Cite

Shiraliyeva, R., Asadova, U., & Mirzazade, S. (2023). Dystrophic Myotonia. National Journal of Neurology, 54–57. https://doi.org/10.61788/njn.v2i24.09

Issue

2023: No.2 (24)

Section

Clinical Case

License

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