A new systematic scoping review summarizes the most recent findings about assessments, modifications, and therapies for motor functions in adults with late-onset Pompe disease (LOPD).

More specifically, the results indicated that adults with LOPD have symmetrical weakness that is especially pronounced in the lumbar and hip muscles, reported Théo Maulet, PT, PhD, of the Paris-Saclay University in Versailles, France, and colleagues.

Locomotor activities are restricted with a distance decline, an elevated pelvic tilt and drop, and spatiotemporal gait parameter alterations, they also found.  

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The findings were published in the journal Neurology.

Read more about the symptoms of Pompe disease

Knowledge of motor dysfunctions such as impaired locomotion and postural control can provide a clear and comprehensive overview of motor function in adults with the disease, the authors noted.

The review underscores the lack of research about the motor function characteristics of adults with LOPD, they added. “Maximal muscle strength was the only neuromuscular performance studied, and gait biomechanics and postural control were poorly explored,” the study team wrote.

The researchers analyzed 58 articles exploring locomotion, neuromuscular performance, and postural control in adults with LOPD. In these investigations, 3% explored postural control, 83% neuromuscular performance, and 88% locomotion.

The study team collected the studies from EMBASE, Cochrane, and MEDLINE databases. They included studies that offered primary data on 4 or more study participants.

Other data showed that balance disorders are often reported, especially in the anterior-posterior direction.

“We performed the first review on motor function characteristics in adults with [LOPD],” the study authors wrote. However, the link between the degree of muscle weakness and motor dysfunction “remains to be determined,” they added.

Pompe disease is a rare genetic disorder caused by a mutation in the gene that codes for the lysosomal acid alpha-glucosidase enzyme. The mutations can lead to the deficiency or complete absence of the enzyme. Symptoms of LOPD, the less severe form of the disease, include paraspinal and lower-limb muscle weakness followed by scoliosis, lumbar hyperlordosis, and eventually loss of mobility. 


Théo M,  Bonnyaud C, Weill C, et al. Motor function characteristics of adults with late-onset Pompe disease: a systematic scoping review. Neurology. Published online October 27, 2022. doi:10.1212/WNL.0000000000201333