Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?

Lorenzoni, Paulo José; Kay, Cláudia Suemi Kamoi; Higashi, Nádia Sugano; D’Almeida, Vânia; Werneck, Lineü Cesar; Scola, Rosana Hermínia

doi:10.1590/0004-282x20180018

Cited by 9 publications

(6 citation statements)

References 19 publications

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“…Although no longer classified as a muscular dystrophy of the autosomal recessive type 2 V (LGMD2V) [8] in the updated nomenclature for LGMD, Pompe disease (MIM# 232300), also known as Glycogen Storage Disease Type II, is a rare metabolic disease with a broad clinical spectrum and overlapping signs and symptoms to recessive LGMDs [9]. The estimated prevalence of Pompe disease varies from 1:40,000 to 1:60,000.…”

Section: Introductionmentioning

confidence: 99%

“…To date, the success rate of sequencing of a gene panel for the diagnosis of LGMD R or LOPD has not been reported in the Latin American population. A recent study that looked at enzymatic activity showed a 4.2% yield for Pompe disease [9]; however, no study designed to assess variants in a Latin American population or how Pompe disease is related with other LGMD has been conducted. We investigated the sensitivity and specificity for the detection of variants in a gene panel associated with the most common forms of LGMD R and LOPD in a population with undiagnosed limb-girdle weakness in Latin America.…”

Section: Introductionmentioning

confidence: 99%

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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Bevilacqua

Ehuletche²,

Perna

et al. 2020

Orphanet J Rare Dis

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Background: Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder and pelvic girdles. An important differential diagnosis among patients presenting with proximal muscle weakness (PMW) is late-onset Pompe disease (LOPD), a rare neuromuscular glycogen storage disorder, which often presents with early respiratory insufficiency in addition to PMW. Patients with PMW, with or without respiratory symptoms, were included in this study of Latin American patients to evaluate the profile of variants for the included genes related to LGMD recessive (R) and LOPD and the frequency of variants in each gene among this patient population. Results: Over 20 institutions across Latin America (Brazil, Argentina, Peru, Ecuador, Mexico, and Chile) enrolled 2103 individuals during 2016 and 2017. Nine autosomal recessive LGMDs and Pompe disease were investigated in a 10gene panel (ANO5, CAPN3, DYSF, FKRP, GAA, SGCA, SGCB, SGCD, SGCG, TCAP) based on reported disease frequency in Latin America. Sequencing was performed with Illumina's NextSeq500 and variants were classified according to ACMG guidelines; pathogenic and likely pathogenic were treated as one category (P) and variants of unknown significance (VUS) are described. Genetic variants were identified in 55.8% of patients, with 16% receiving a definitive molecular diagnosis; 39.8% had VUS. Nine patients were identified with Pompe disease. Conclusions: The results demonstrate the effectiveness of this targeted genetic panel and the importance of including Pompe disease in the differential diagnosis for patients presenting with PMW.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Bevilacqua

Ehuletche²,

Perna

et al. 2020

Orphanet J Rare Dis

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“…The latter abnormality was detected in one patient by Lorenzoni et al ,39 who searched for LOPD in patients with unclassified limb-girdle muscle weakness (LGMW) without vacuolar myopathy. There is potential for detecting LOPD from a muscle biopsy if at least acid phosphatase activity is increased 39. The authors often observed an increased intermyofibrillar network of glycogen; nevertheless, since the DBS screening was negative, this sign should be accepted as an unspecific change.…”

Section: Discussionmentioning

confidence: 98%

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

2019

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AimsAs of 2016, there were five patients with Pompe in Slovenia (two infantile, one childhood and two adult onset) with a prevalence of 1:400 000; however, the prevalence of late-onset Pompe disease (LOPD) in some other countries means this ratio could be an underestimate. Since an LOPD muscle biopsy could be unspecific or even normal, the purpose of this study is to assess the prevalence of LOPD in patients with non-diagnostic muscle biopsies.MethodsSix hundred biopsies were recorded at the Neuromuscular Tissue Bank of the University of Ljubljana for the period 2004–2014. All adult patients with non-diagnostic muscle biopsies were invited to the National Slovenian Neuromuscular Centre for dried blood spot testing for LOPD.ResultsA total of 90 patients (56% of those invited) responded. No patient with LOPD was found. A total of 49 patients (54%) had fixed muscle weakness, 31 (34%) had mild symptoms and no weakness and 10 (11%) had asymptomatic hyperCKemia. Ventilatory insufficiency associated with proximal muscle weakness was found in two patients (2%). No patients exhibited vacuolar myopathy, globular accumulations of glycogen or regions of increased acid phosphatase activity within the sarcoplasm.ConclusionsThe study results do not support the hypothesis that LOPD is underestimated in Slovenian patients with non-diagnostic muscle biopsies; this could be consistent with the fact that LOPD is of low prevalence in Slovenia, as is the case in the populations of Finland, French-speaking Belgium, west Sweden and west Denmark.

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“…Given the need for early diagnosis and treatment, a low threshold for screening for LOPD is crucial in patients with unclassified limb-girdle muscle weakness and/or with asymptomatic hyperCKemia [5,10,15,19,20,23]. In the Polish population, we have performed screening for LOPD in a cohort of patients with limb-girdle muscle weakness and/or persistent hyperCKemia, confirming the diagnosis in 3% of patients.…”

Section: Neuromuscular Symptomsmentioning

confidence: 88%

“…LOPD presents with slowly progressive limb-girdle muscle weakness in 78-95% of patients [15][16][17][18]. Muscle fatigue, exercise intolerance, decreased mobility, axial muscle weakness and myalgia are also frequently reported [1,[19][20][21].…”

Section: Neuromuscular Symptomsmentioning

confidence: 99%

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

Jastrzębska

Kostera‐Pruszczyk

2023

Neurol Neurochir Pol.

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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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Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?

Cited by 9 publications

References 19 publications

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies

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

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