Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy

Mol Genet Metab. 2021 Jul;133(3):261-268. doi: 10.1016/j.ymgme.2021.05.005. Epub 2021 May 13.

PMID: 34053870

Harrison N Jones, Lisa D Hobson-Webb, Maragatha Kuchibhatla, Kelly D Crisp, Ashley Whyte-Rayson, Milisa T Batten, Paul J Zwelling, Priya S Kishnani

Highlights: In Late-onset Pompe disease (LOPD), tongue weakness and imaging abnormalities are increasingly recognized. Quantitative tongue weakness and/or atrophy may help distinguish LOPD from other acquired/hereditary myopathies.

Abstract

Objective: Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that manifests in the first year of life to adulthood. Clinical manifestations are diverse, differential diagnosis is difficult, and diagnostic delays are typical. The overlap of clinical characteristics with those seen in other kinds of acquired/hereditary myopathy makes differential diagnosis challenging. In LOPD, tongue weakness and imaging abnormalities are increasingly recognized.

Methods: 70 participants were investigated for their tongue shape and function, including 10 with LOPD who had not received therapy, 30 with different acquired/hereditary myopathy, and 30 controls with neuropathy, in order to see if tongue involvement could be used to diagnose LOPD. Manual and quantitative muscle testing were used to determine tongue strength. The tongue's overall appearance, echointensity, and thickness were measured using ultrasound (US).

Results: There were statistically significant differences in tongue strength, qualitative appearance, echointensity, and thickness between LOPD patients and neuropathic controls. Based on statistically significant declines in quantitative tongue strength and sonographic muscle thickness, LOPD individuals had more tongue involvement than those with other acquired/hereditary myopathies. These findings make a significant contribution pile of evidence that the tongue plays a role in LOPD, which is marked by weakness and sonographic abnormalities that imply fibrofatty replacement and atrophy.

Conclusion: Quantitative tongue weakness and/or atrophy may help distinguish LOPD from other acquired/hereditary myopathies. Furthermore, the findings in this study show that US is an effective and efficient imaging tool for assessing the lingual musculature quantitatively at the point of treatment.

Keywords: Lingual weakness, Myopathy, Pompe disease, Quantitative muscle strength, Tongue, Ultrasound.