Journal
MUSCLE & NERVE
Volume 44, Issue 6, Pages 897-901Publisher
WILEY
DOI: 10.1002/mus.22202
Keywords
glycogen-storage disease type II; late-onset Pompe disease; lingual weakness; phenotype; Pompe disease; tongue; tongue weakness
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Introduction: Following the clinical observation of lingual weakness in 2 patients with late-onset Pompe disease (LOPD), tongue strength was assessed in 19 consecutive patients to determine the frequency and severity of this neurological sign. Methods: Lingual strength was assessed using manual muscle testing; if weakness was present, severity was established as mild, moderate, or severe. Results: All the patients exhibited lingual weakness, even 2 asymptomatic patients with a positive family history. Weakness was mild in 12 (63%), moderate in 6 (32%), and severe in 1 (5%). Dysarthria and/or dysphagia were observed or reported in 7 of 19 (37%) patients. Conclusions: Lingual weakness may be present as an axial sign of LOPD, even relatively early in the disease course, and may contribute to the differential diagnosis of this now treatable condition. Dysphagia and/or dysarthria may also occur. This finding further expands the phenotype of LOPD. Muscle Nerve 44: 897-901, 2011
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