Skeletal muscle disease resulting in weakness is common in late-onset Pompe disease (LOPD). Recent data implicate common bulbar muscle involvement (i.e., the tongue). The authors used quantitative assessment of lingual strength to determine retrospectively the frequency and severity of lingual weakness in LOPD. They additionally examined associations between lingual strength and the presence or absence of dysarthria, and dysarthria severity. Quantitative assessment revealed lingual weakness to be present in 80% of the sample. In the 24 affected patients, severity was mild in 29%, moderate in 29%, and severe in 42%. Patients with clinical dysarthria had greater lingual weakness than those without. As dysarthria severity increased, lingual strength decreased by an average of 6.82 kPa. These quantitative data provide additional support for presence of bulbar muscle disease in patients with LOPD. Further study is necessary to determine functional effects, temporal progression, and effects of treatment.
