Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Dubrovsky, A; Corderi, J; Lin, M; Kishnani, PS; Jones, HN

Published Date

  • December 2011

Published In

Volume / Issue

  • 44 / 6

Start / End Page

  • 897 - 901

PubMed ID

  • 21953123

Electronic International Standard Serial Number (EISSN)

  • 1097-4598

Digital Object Identifier (DOI)

  • 10.1002/mus.22202


  • eng

Conference Location

  • United States