Neurodevelopmental milestones in neuromuscular diseases

Neuromuscular diseases are part of a complex group of diseases that can have one of four locations: the motor neuron, muscle, neuromuscular junction, and peripheral nerve. They can have a hereditary etiology or be acquired. Among the most important neuromuscular diseases to be aware of are those that have disease-modifying therapy, such as spinal muscular atrophy and Duchenne/Becker muscular dystrophy. Early diagnosis makes a difference in the quality of life and prognosis of these patients. Neuromuscular diseases have a wide clinical variability, varying patterns of muscle weakness, and involvement of different organs, so clinical suspicion is important. Among the clinical manifestations, patients may present with hypotonia, neurodevelopmental delay, gait disturbance, frequent falls, orthopedic disorders, swallowing disorders, among others. It is important to know the milestones of normal neurodevelopment. To identify abnormalities, a child should achieve head support between 2-4 months, sitting between 6-8 months, and walking at 18 months, according to the World Health Organization. If the patient was premature, a corrected age should be determined and neurodevelopment assessed accordingly. Anything that does not match the patient's neurodevelopmental charts is not normal and should be investigated. Comments should be avoided, as each child develops at their own pace; some boys take longer than girls. There are scales that can be quickly performed in the office that can help us adequately monitor neurodevelopment, especially in the motor area, and identify patients at risk.

Dr. Carol Zuniga studied medicine and general surgery at the National Autonomous University of Honduras. She later specialized in pediatrics, then a subspecialty in pediatric neurology at the Centro Medico Nacional 20 de Noviembre in Mexico City, and a high specialty in neurogenetics at the Manuel Velasco Suarez Institute of Neurology and Neurosurgery in the same city.