A novel screening system that involves primary care clinics may promote the early diagnosis of neuromuscular diseases such as Pompe disease (PD), spinal muscular atrophy (SMA), and Duchenne muscular dystrophy (DMD), among others, according to a study recently published in Children.

“This pilot study demonstrates the feasibility of conducting a universal screening for rare genetic [neuromuscular disorders] as part of the routine health visits conducted by [primary care pediatricians (PCPs)] in the first two years of life,” the authors wrote.

The prospective research aimed to assess the usefulness of implementing a 3-step screening system for rare neuromuscular disorders in infants during their first 30 months of life. The first step consisted of PCPs evaluating motor development milestones.

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Whenever a “red flag” occurred, the pediatrician would refer the patient to a local neuropsychiatric evaluation as the second step. If the second evaluation identified a potential neuromuscular disorder, the third step involved referring the patient to a specialized tertiary center.

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In the first year of testing this system, 10,032 primary care consults took place. Of these, 20 patients (0.2%) had a positive assessment during the first step and underwent a neuropsychiatric evaluation. In the second phase, 4 patients exhibited high creatine kinase levels and were then referred to a hospital with a specialized neuromuscular unit.

Among the 20 patients who underwent further tests, 10 did not undergo evaluation for SMA and PD screening, which involved genetic testing and dried blood spot assay, respectively.

Currently, only SMA has a clear screening consensus in newborns. As for PD, this disease has been harder to detect early since many patients present with the late-onset form. Similarly, the benefit of routine newborn screening for DMD is not clear, probably due to the rarity of the disease, and the current recommended treatment consists of steroids, which are typically avoided in the first 3 years of life.

Regardless, initiating the appropriate therapeutic measures as early as possible is often challenging due to a delay in diagnosis. These facts highlight the need for a low-cost and easy-to-perform method of screening for rare neuromuscular disorders.

“The model proved to be sustainable because no extra burden was added to PCPs: they had just to note the ‘red flags’ during the Health Status Check visits, which are mandatory in the Italian National Health System,” the study concluded.


Ricci FS, D’Alessandro R, Vacchetti M, et al. Improving recognition of treatable rare neuromuscular disorders in primary care: a pilot feasibility study. Children. 2022;9(7):1063. doi:10.3390/children9071063