Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that presents in the first year of life to adulthood. Clinical presentation is heterogeneous, differential diagnosis is challenging, and diagnostic delay is common. One challenge to differential diagnosis is the overlap of clinical features with those encountered in other forms of acquired/hereditary myopathy. Tongue weakness and imaging abnormalities are increasingly recognized in LOPD. In order to explore the diagnostic potential of tongue involvement in LOPD, we assessed tongue structure and function in 70 subjects, including 10 with LOPD naive to treatment, 30 with other acquired/hereditary myopathy, and 30 controls with neuropathy. Tongue strength was assessed with both manual and quantitative muscle testing. Ultrasound (US) was used to assess tongue overall appearance, echointensity, and thickness. Differences in tongue strength, qualitative appearance, echointensity, and thickness between LOPD subjects and neuropathic controls were statistically significant. Greater tongue involvement was observed in LOPD subjects compared to those with other acquired/hereditary myopathies, based on statistically significant decreases in quantitative tongue strength and sonographic muscle thickness. These findings provide additional evidence for tongue involvement in LOPD characterized by weakness and sonographic abnormalities suggestive of fibrofatty replacement and atrophy. Findings of quantitative tongue weakness and/or atrophy may aid differentiation of LOPD from other acquired/hereditary myopathies. Additionally, our experiences in this study reveal US to be an effective, efficient imaging modality to allow quantitative assessment of the lingual musculature at the point of care.

迟发性庞贝病 (LOPD) 是一种遗传性常染色体隐性遗传进行性代谢性肌病，出现在生命的第一年至成年。临床表现异质，鉴别诊断具有挑战性，诊断延迟很常见。鉴别诊断的一个挑战是临床特征与其他形式的获得性/遗传性肌病的临床特征重叠。舌无力和影像学异常在 LOPD 中得到越来越多的认识。为了探索舌受累在 LOPD 中的诊断潜力，我们评估了 70 名受试者的舌结构和功能，其中 10 名 LOPD 未接受过治疗，30 名其他获得性/遗传性肌病和 30 名神经病对照。通过手动和定量肌肉测试来评估舌力。超声 (US) 用于评估舌头的整体外观、回声强度和厚度。LOPD 受试者和神经病变对照组之间的舌力、定性外观、回声强度和厚度的差异具有统计学意义。与其他获得性/遗传性肌病患者相比，LOPD 受试者的舌头受累程度更大，这是基于定量舌头力量和超声肌肉厚度的统计学显着降低。这些发现为以无力和提示纤维脂肪替代和萎缩的超声检查异常为特征的 LOPD 中舌受累提供了额外的证据。定量舌无力和/或萎缩的发现可能有助于区分 LOPD 与其他获得性/遗传性肌病。此外，