Hypercapnic respiratory failure in a patient with nemaline myopathy

Neuromuscular diseases are often associated with a range of respiratory complications, presenting both diagnostic and therapeutic challenges for pulmonologists.

The aim of this article is to discuss search of genetic causes and means of respiratory support in case of a man who was diagnosed with NM after 50 years of age. The selected diagnostic and treatment algorithms allowed for successful control of the patient’s condition for 4 years. Whole exome sequencing identified nemaline myopathy (NM), a rare genetically-determined skeletal muscle pathology. Respiratory failure syndrome is considered a life-threatening condition in NM. The severity and characteristics of the clinical course vary depending on the specific mutations. The typical course of NM is characterized by generalized, slowly progressive myopathy, and the manifestation of respiratory failure may be triggered by comorbidities.

Conclusion. The course and management of respiratory failure in NM are poorly understood. Whole exome sequencing made it possible to establish genetic diagnosis, evaluate prognosis and the contribution of comorbidities to the patient’s condition. Noninvasive ventilation compensated the respiratory failure and resolved the symptoms of right ventricular heart failure.

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