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.
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.
Authors: Mari Mori; Gloria Haskell; Zoheb Kazi; Xiaolin Zhu; Stephanie M DeArmey; Jennifer L Goldstein; Deeksha Bali; Catherine Rehder; Elizabeth T Cirulli; Priya S Kishnani Journal: Mol Genet Metab Date: 2017-10-17 Impact factor: 4.797
Authors: Mai K Elmallah; Darin J Falk; Sushrusha Nayak; Roland A Federico; Milapjit S Sandhu; Amy Poirier; Barry J Byrne; David D Fuller Journal: Mol Ther Date: 2013-12-12 Impact factor: 11.454
Authors: Allison M Keeler; Donghai Liu; Marina Zieger; Lang Xiong; Jeffrey Salemi; Karl Bellvé; Barry J Byrne; David D Fuller; Ronghua ZhuGe; Mai K ElMallah Journal: Am J Physiol Lung Cell Mol Physiol Date: 2017-03-23 Impact factor: 5.464
Authors: David D Fuller; Mai K ElMallah; Barbara K Smith; Manuela Corti; Lee Ann Lawson; Darin J Falk; Barry J Byrne Journal: Respir Physiol Neurobiol Date: 2013-06-21 Impact factor: 1.931
Authors: Allison M Keeler; Marina Zieger; Sophia H Todeasa; Angela L McCall; Jennifer C Gifford; Samantha Birsak; Sourav R Choudhury; Barry J Byrne; Miguel Sena-Esteves; Mai K ElMallah Journal: Hum Gene Ther Date: 2018-07-25 Impact factor: 5.695