Key result
Observation of 6 boys with Duchenne muscular dystrophy showed that the absence of typical calf pseudohypertrophy delayed diagnosis, with the time from symptom onset to diagnosis ranging from 5 months to 8 years.
Why the study?
Pathogenetic therapies for Duchenne muscular dystrophy have recently appeared but are mutation-specific, highlighting the need to accurately diagnose mutations to determine observation tactics, preventive measures, and pathogenetic treatment.
Observational (n=6)
No
The study highlights the significant delay in diagnosing Duchenne muscular dystrophy, emphasizing the need for early creatine kinase testing in boys with motor symptoms to enable timely pathogenetic therapy.
Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for pathogenetic treatment of Duchenne myodystrophy have appeared in Russia. Unfortunately, this therapy is not universal and can only be prescribed to patients with certain types and regions of mutations. Establishing an accurate diagnosis for patients will allow timely determination of observation tactics, effective implementation of preventive and rehabilitative measures, and obtaining pathogenetic treatment. Gene therapy is a perspective option. This article describes clinical cases of Duchenne myopathy in patients with different variants of mutations in the dystrophin gene against the background of pathogenetic therapy.
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Minaycheva et al. (2023) conducted an observational in Duchenne muscular dystrophy (n=6). Observation and pathogenetic therapy was evaluated on Clinical symptoms and disease course. Observation of 6 boys with Duchenne muscular dystrophy showed that the absence of typical calf pseudohypertrophy delayed diagnosis, with the time from symptom onset to diagnosis ranging from 5 months to 8 years.
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