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Toward deconstructing the phenotype of late-onset Pompe disease.

Abstract

Pompe disease (glycogen storage disease type 2 or acid maltase deficiency) is a rare autosomal recessive lysosomal storage disorder. Since the advent of ERT a lot has been learned about the phenotypic spectrum especially in the late onset patients. We describe in detail 44 patients diagnosed with late-onset Pompe disease (LOPD) at our neuromuscular department from 1985 to 2011 and compare them to patients with LOPD in the literature of the past 40 years. Study of the Munich LOPD group revealed varying musculoskeletal and cardio-cerebrovascular manifestation patterns. Several of these symptom patterns commonly appeared in conjunction with one another, highlighting the multisystem involvement of this condition. Common symptom patterns include: (i) Classic limb girdle and diaphragmatic weakness, (ii) rigid spine syndrome (RSS), scoliosis, and low body mass, and (iii) several cardio-cerebrovascular manifestation patterns. The most common presentation, limb girdle and diaphragmatic weakness, appeared in 78% (34/44) of our patients and over 80% of those in the literature. Sixteen percent (7/44) of our patients presented with rigid spine, scoliosis, and low body mass. Although scoliosis had a reported frequency of 33% in the general LOPD patient population, the literature only occasionally reported low body mass and RSS. Importantly, a multisystem extramuscular finding accompanied by cardio-cerebrovascular manifestations was found in 29% (13/44) of our LOPD patients; the literature showed an increasing prevalence of this latter finding. By examining the phenotype of patients with confirmed LOPD, we found a more subtle clinical multisystem involvement in LOPD. Whether patients presenting with the different symptom patterns respond differently to enzyme replacement therapy remains a key question for future research. © 2012 Wiley Periodicals, Inc.

Authors+Show Affiliations

Friedrich-Baur-Institute, Department of Neurology Ludwig-Maximilians-University, Munich, Germany.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

22253010

Citation

Schüller, Angela, et al. "Toward Deconstructing the Phenotype of Late-onset Pompe Disease." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 160C, no. 1, 2012, pp. 80-8.
Schüller A, Wenninger S, Strigl-Pill N, et al. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C(1):80-8.
Schüller, A., Wenninger, S., Strigl-Pill, N., & Schoser, B. (2012). Toward deconstructing the phenotype of late-onset Pompe disease. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 160C(1), pp. 80-8. doi:10.1002/ajmg.c.31322.
Schüller A, et al. Toward Deconstructing the Phenotype of Late-onset Pompe Disease. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):80-8. PubMed PMID: 22253010.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Toward deconstructing the phenotype of late-onset Pompe disease. AU - Schüller,Angela, AU - Wenninger,Stephan, AU - Strigl-Pill,Nicola, AU - Schoser,Benedikt, Y1 - 2012/01/17/ PY - 2012/1/19/entrez PY - 2012/1/19/pubmed PY - 2012/7/25/medline SP - 80 EP - 8 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 160C IS - 1 N2 - Pompe disease (glycogen storage disease type 2 or acid maltase deficiency) is a rare autosomal recessive lysosomal storage disorder. Since the advent of ERT a lot has been learned about the phenotypic spectrum especially in the late onset patients. We describe in detail 44 patients diagnosed with late-onset Pompe disease (LOPD) at our neuromuscular department from 1985 to 2011 and compare them to patients with LOPD in the literature of the past 40 years. Study of the Munich LOPD group revealed varying musculoskeletal and cardio-cerebrovascular manifestation patterns. Several of these symptom patterns commonly appeared in conjunction with one another, highlighting the multisystem involvement of this condition. Common symptom patterns include: (i) Classic limb girdle and diaphragmatic weakness, (ii) rigid spine syndrome (RSS), scoliosis, and low body mass, and (iii) several cardio-cerebrovascular manifestation patterns. The most common presentation, limb girdle and diaphragmatic weakness, appeared in 78% (34/44) of our patients and over 80% of those in the literature. Sixteen percent (7/44) of our patients presented with rigid spine, scoliosis, and low body mass. Although scoliosis had a reported frequency of 33% in the general LOPD patient population, the literature only occasionally reported low body mass and RSS. Importantly, a multisystem extramuscular finding accompanied by cardio-cerebrovascular manifestations was found in 29% (13/44) of our LOPD patients; the literature showed an increasing prevalence of this latter finding. By examining the phenotype of patients with confirmed LOPD, we found a more subtle clinical multisystem involvement in LOPD. Whether patients presenting with the different symptom patterns respond differently to enzyme replacement therapy remains a key question for future research. © 2012 Wiley Periodicals, Inc. SN - 1552-4876 UR - https://www.unboundmedicine.com/medline/citation/22253010/Toward_deconstructing_the_phenotype_of_late_onset_Pompe_disease_ L2 - https://doi.org/10.1002/ajmg.c.31322 DB - PRIME DP - Unbound Medicine ER -