Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Title

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Creator

Mueller-Felber W; Horvath R; Gempel K; Podskarbi T; Shin Y; Pongratz D; Walter MC; Baethmann M; Schlotter-Weigel B; Lochmuller H; Schoser B

Publisher

Neuromuscular Disorders

Date

2007

Subject

Child; Female; Humans; Male; Adult; Middle Aged; Disease Progression; Longitudinal Studies; adolescent; Preschool; Q3 Literature Search; retrospective studies; Age of Onset; Electromyography; Glycogen Storage Disease Type II/diagnosis/physiopathology; Limb-Girdle; Muscle Weakness; Muscular Dystrophies; Respiration Disorders/etiology

Description

To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with late onset Pompe disease at our neuromuscular department during 1985 and 2006 are described in detail. The mean delay from onset of symptoms or first medical consultation until diagnosis was 10.4 and 7.1 years, respectively. A different diagnosis was suggested in 11 of 38 patients. Ten patients underwent repeated muscle biopsies before diagnosis of Pompe disease was established. Limb girdle weakness was the most frequent presenting sign. Six patients complained of myalgia. Wolf-Parkinson-White syndrome was found in 3 of 38 patients. Respiratory failure preceded the onset of overt limb muscle weakness in three patients. The course of the patients was progressive in all, but there was a wide variety of progression, which did not correlate with the age of disease onset. In 71% of the patients, neurophysiological investigations revealed a myopathic EMG pattern, half of the patients had spontaneous activity including complex repetitive discharges. A normal EMG was found in 9% of the patients. Nerve conduction studies were normal in all. Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease.
2007

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

698-706

Issue

9

Volume

17

Citation

Mueller-Felber W; Horvath R; Gempel K; Podskarbi T; Shin Y; Pongratz D; Walter MC; Baethmann M; Schlotter-Weigel B; Lochmuller H; Schoser B, “Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients,” Pediatric Palliative Care Library, accessed May 17, 2022, https://pedpalascnetlibrary.omeka.net/items/show/14365.

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