Main Article

Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observation

  1. Alberto Dubrovsky MD1,
  2. Jose Corderi PhT1,
  3. Min Lin PhD2,
  4. Priya S. Kishnani MBBS, MD3,
  5. Harrison N. Jones PhD4,*

Article first published online: 26 SEP 2011

DOI: 10.1002/mus.22202

Issue

Muscle & Nerve

Muscle & Nerve

Volume 44, Issue 6, pages 897–901, December 2011

Additional Information

How to Cite

Dubrovsky, A., Corderi, J., Lin, M., Kishnani, P. S. and Jones, H. N. (2011), Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observation. Muscle Nerve, 44: 897–901. doi: 10.1002/mus.22202

Author Information

  1. 1

    Instituto de Neurociencias, Fundacion Favaloro, Buenos Aires, Argentina

  2. 2

    Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA

  3. 3

    Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, North Carolina, USA

  4. 4

    Division of Speech Pathology and Audiology, Department of Surgery, Duke University, 155 Baker House, Trent Drive, DUMC 3887, Durham, North Carolina 27710, USA

*Division of Speech Pathology and Audiology, Department of Surgery, Duke University, 155 Baker House, Trent Drive, DUMC 3887, Durham, North Carolina 27710, USA

Publication History

  1. Issue published online: 18 NOV 2011
  2. Article first published online: 26 SEP 2011
  3. Accepted manuscript online: 14 JUN 2011 08:25AM EST
  4. Manuscript Accepted: 9 JUN 2011

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Keywords:

  • glycogen-storage disease type II;
  • late-onset Pompe disease;
  • lingual weakness;
  • phenotype;
  • Pompe disease;
  • tongue;
  • tongue weakness

Abstract

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, 2011

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