Clinical and genetic aspects of modern diagnostic strategies for hereditary diseases

Objective: to summarize current clinical, instrumental, and molecular genetic approaches to the diagnosis of hereditary neuromuscular diseases.

Material and methods: a review of recent domestic and international publications on the diagnosis of hereditary neuromuscular diseases was performed, with emphasis on clinical evaluation, electrophysiological methods (electroneuromyography), imaging techniques (muscle magnetic resonance imaging), biochemical markers of muscle damage, and molecular genetic methods, including polymerase chain reaction, MLPA, and next-generation sequencing. A systematic and comparative analysis of literature data published over the last 10 years was conducted.

Results: the review showed isolated use of clinical or instrumental diagnostic methods to be insufficient for accurate verification of most forms of hereditary neuromuscular diseases. The highest diagnostic value was demonstrated by a comprehensive approach integrating clinical phenotype assessment, ENMG findings, and modern molecular genetic technologies. Genetic confirmation of the diagnosis allows to clarifiy the nosological form, identify the inheritance pattern, and predict course of the disease.

Conclusion: modern diagnostic strategies for hereditary neuromuscular diseases should be based on the integration of clinical, instrumental, and molecular genetic methods. A comprehensive diagnostic approach contributes to early detection, reduction of diagnostic errors, and development of personalized patient management algorithms.

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