Phenotypical and molecular patterns of neuromuscular diseases in patients of the pediatric neurology outpatient office of the Mario Catarino Rivas Hospital, during 2019-2022

Abstract

Background: Neuromuscular diseases can be either hereditary or acquired in nature. They may present during childhood and/or adolescence, with a generally genetic origin, and carry a high risk of developing chronic conditions that lead to physical limitations and developmental difficulties.

 Objective: To describe the clinical and molecular characteristics of patients diagnosed with neuromuscular diseases who were treated at the neurology outpatient clinic of Mario Catarino Rivas Hospital during the period 2019–2022.

Patients and methodology: This is a descriptive correlational study involving 23 pediatric patients with neuromuscular diseases attended in the pediatric neurology outpatient clinic. A non-probability convenience sampling method was used. Informed consent was obtained from each participant’s parent or legal guardian prior to the study. A survey-type instrument was applied and later processed using statistical software.

Results: It was found that 78.26% of the patients were school-aged children, with a mean age of 6.9 years; 73.91% were male; 57.52% were from the Cortés region. Most had access to public services and no history of consanguinity. The majority had not achieved head control, crawling, or walking milestones. The average age at first consultation was one year, with gait abnormalities being the most common reason for seeking medical attention. In 21.74% of cases, the disease showed progressive characteristics within two years. Electromyography revealed a myopathic pattern in 43.48% of cases, a neuropathic pattern in 8.70%, and normal findings in 4.35%. The most frequent genetic diagnosis was Duchenne muscular dystrophy in 21.74% of cases, and the overall mortality rate was 9.0%.

Conclusions: The most frequent phenotypic pattern was the absence of head control, crawling, and gait abnormalities. The most common molecular diagnosis was Duchenne/Berkher muscular dystrophy. Genetic testing is essential for classifying the disease and determining functional and life prognosis.