A clinical trial assessing the prevalence, severity, and quality of musculoskeletal nociceptive pain in adults with neuromuscular disorders including Pompe disease has been completed.

The explorative, cross-sectional, case-control pilot study that ran at the Friedrich-Baur-Institute in Munich, Germany under the supervision of Stephan Wenninger, MD, PhD, started on April 15, 2021, and ran through August 15, 2022. It included a total of 82 participants (patients and healthy controls), aged 18 or more years with a neuromuscular disorder. 

The primary aim of the study was to characterize the prevalence of musculoskeletal pain. Secondary outcomes measures included the association between musculoskeletal pain and muscle function and depression, and the characterization of the quality and severity of the musculoskeletal pain using different tests.

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The tests used included the Medical research council grading scale, the quick motor function test, the pressure pain threshold, the Beck depression inventory fast screen, the brief pain inventory, the fatigue severity scale, and the German pain questionnaire.

Read more about the symptoms of Pompe disease

Pompe disease is a rare genetic disease characterized by the deficiency or absence of the lysosomal acid alpha-glucosidase (GAA) enzyme, whose role is to cleave glycogen to form glucose. Mutations in the gene that codes for the GAA enzyme lead to glycogen accumulation inside tissues, impairing their function.

The symptoms of the disease include exercise intolerance, muscle weakness and dysfunction, pain, breathing failure, sleep apnea, dyspnea, and respiratory infections.

Other neuromuscular disorders that are being tested during the clinical trial are inclusion body myositis, spinal muscular atrophy type 3, myotonic dystrophy type 1 and 2, and facioscapulohumeral muscle dystrophy. 

The results of the trial are expected soon.

Nociceptive pain is 1 of 2 types of physical pain, the other being neuropathic pain. It is caused by damage to the tissues of the body. 


Musculoskeletal nociceptive pain in participants with neuromuscular disorders. US National Library of Medicine. Last updated August 24, 2022. Accessed September 12, 2022.