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open access

Vol 57, No 2 (2023)
Review Article
Submitted: 2022-06-08
Accepted: 2022-08-14
Published online: 2022-12-07
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Multisystem presentation of Late Onset Pompe Disease: what every consulting neurologist should know

Aleksandra Jastrzębska1, Anna Kostera-Pruszczyk1
DOI: 10.5603/PJNNS.a2022.0075
·
Pubmed: 36478346
·
Neurol Neurochir Pol 2023;57(2):143-150.
Affiliations
  1. Department of Neurology, Medical University of Warsaw, Warsaw, Poland

open access

Vol 57, No 2 (2023)
Review articles
Submitted: 2022-06-08
Accepted: 2022-08-14
Published online: 2022-12-07

Abstract

Introduction. Pompe disease is a rare, autosomal recessive, lysosomal disorder caused by deficiency of alpha glucosidase (GAA). It leads to the accumulation of glycogen in body tissues, with severe myopathy and cardiomegaly as a hallmark of the classic infantile form. Non-classical, or late onset, Pompe disease (LOPD) manifests after 12 months of age or in adulthood.

Material and methods. The clinical heterogeneity of LOPD causes delay in diagnosis and pharmacological treatment. In the Polish population, it is still underdiagnosed, and the time from onset to diagnosis remains a cause for concern.

Clinical implications. Although typically patients present with proximal muscle weakness, high CK or early respiratory insufficiency, they can also suffer from multiple symptoms from other organs. Patients may present with arrhythmias, vascular abnormalities including aneurysms or dilative arteriopathy, gastric or urinary symptoms, or musculoskeletal pathologies.

Results. A high index of suspicion among neurologists consulting internal medicine wards would aid early diagnosis of LOPD, while a multidisciplinary approach with the involvement of other specialists can reduce the risk of complications and improve the prognosis for LOPD patients. Patients who manifest with musculoskeletal and respiratory symptoms are prone to be diagnosed sooner than individuals with non-muscular symptoms, and therefore it is important to raise awareness of other manifestations of this disease.

Abstract

Introduction. Pompe disease is a rare, autosomal recessive, lysosomal disorder caused by deficiency of alpha glucosidase (GAA). It leads to the accumulation of glycogen in body tissues, with severe myopathy and cardiomegaly as a hallmark of the classic infantile form. Non-classical, or late onset, Pompe disease (LOPD) manifests after 12 months of age or in adulthood.

Material and methods. The clinical heterogeneity of LOPD causes delay in diagnosis and pharmacological treatment. In the Polish population, it is still underdiagnosed, and the time from onset to diagnosis remains a cause for concern.

Clinical implications. Although typically patients present with proximal muscle weakness, high CK or early respiratory insufficiency, they can also suffer from multiple symptoms from other organs. Patients may present with arrhythmias, vascular abnormalities including aneurysms or dilative arteriopathy, gastric or urinary symptoms, or musculoskeletal pathologies.

Results. A high index of suspicion among neurologists consulting internal medicine wards would aid early diagnosis of LOPD, while a multidisciplinary approach with the involvement of other specialists can reduce the risk of complications and improve the prognosis for LOPD patients. Patients who manifest with musculoskeletal and respiratory symptoms are prone to be diagnosed sooner than individuals with non-muscular symptoms, and therefore it is important to raise awareness of other manifestations of this disease.

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Keywords

LOPD, Late onset Pompe disease, GAA, multidisciplinary approach

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About this article
Title

Multisystem presentation of Late Onset Pompe Disease: what every consulting neurologist should know

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 57, No 2 (2023)

Article type

Review Article

Pages

143-150

Published online

2022-12-07

Page views

2348

Article views/downloads

826

DOI

10.5603/PJNNS.a2022.0075

Pubmed

36478346

Bibliographic record

Neurol Neurochir Pol 2023;57(2):143-150.

Keywords

LOPD
Late onset Pompe disease
GAA
multidisciplinary approach

Authors

Aleksandra Jastrzębska
Anna Kostera-Pruszczyk

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