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Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
Neuromuscul Disord 2007; 17(9-10):698-706ND

Abstract

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.

Authors+Show Affiliations

Haunersche Kinderklinik, Childrens Hospital, Ludwig-Maximilians-University, Lindwurmstr. 4, 80337 Munich, Germany. wolfgang.mueller-felber@med.uni-muenchen.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17643989

Citation

Müller-Felber, Wolfgang, et al. "Late Onset Pompe Disease: Clinical and Neurophysiological Spectrum of 38 Patients Including Long-term Follow-up in 18 Patients." Neuromuscular Disorders : NMD, vol. 17, no. 9-10, 2007, pp. 698-706.
Müller-Felber W, Horvath R, Gempel K, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007;17(9-10):698-706.
Müller-Felber, W., Horvath, R., Gempel, K., Podskarbi, T., Shin, Y., Pongratz, D., ... Schoser, B. (2007). Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscular Disorders : NMD, 17(9-10), pp. 698-706.
Müller-Felber W, et al. Late Onset Pompe Disease: Clinical and Neurophysiological Spectrum of 38 Patients Including Long-term Follow-up in 18 Patients. Neuromuscul Disord. 2007;17(9-10):698-706. PubMed PMID: 17643989.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. AU - Müller-Felber,Wolfgang, AU - Horvath,Rita, AU - Gempel,Klaus, AU - Podskarbi,Teodor, AU - Shin,Yoon, AU - Pongratz,Dieter, AU - Walter,Maggie C, AU - Baethmann,Martina, AU - Schlotter-Weigel,Beate, AU - Lochmüller,Hanns, AU - Schoser,Benedikt, Y1 - 2007/07/23/ PY - 2007/01/26/received PY - 2007/05/28/revised PY - 2007/06/06/accepted PY - 2007/7/24/pubmed PY - 2008/1/5/medline PY - 2007/7/24/entrez SP - 698 EP - 706 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 17 IS - 9-10 N2 - 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. SN - 0960-8966 UR - https://www.unboundmedicine.com/medline/citation/17643989/Late_onset_Pompe_disease:_clinical_and_neurophysiological_spectrum_of_38_patients_including_long_term_follow_up_in_18_patients_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(07)00187-3 DB - PRIME DP - Unbound Medicine ER -