The emerging phenotype of late-onset Pompe disease: A systematic literature review

Chan, Justin; Desai, Ankit K.; Kazi, Zoheb B.; Corey, Kaitlyn; Austin, Stephanie; Hobson‐Webb, Lisa D.; Case, Laura E.; Jones, Hilary; Kishnani, Priya S.

doi:10.1016/j.ymgme.2016.12.004

Cited by 150 publications

(196 citation statements)

References 122 publications

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“…Late-onset Pompe disease (LOPD) is usually characterized by a proximal/axial muscle weakness, associated early or later with respiratory impairment or pre-symptomatic hyperCKemia, often with myalgia and/or easy fatigability [2]. For a long time, it has been considered only as a muscle disorder but several reports have demonstrated the frequent involvement of other tissues, highlighting the multisystem nature of the disease [3][4][5][6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

Musumeci¹,

Marıno

Granata³

et al. 2018

Euro J of Neurology

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Background and purpose Late‐onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in LOPD are lacking. The aim of this study was to detect morphological and functional brain alterations as well as neuropsychological impairment in LOPD. Methods We studied 21 patients (10 male, mean age 49 ± 18.4 years) with defined diagnosis of LOPD, divided into two groups: one with pre‐symptomatic hyperCKemia with no muscle weakness and the second with limb‐girdle muscle weakness. All patients underwent 3T magnetic resonance imaging (MRI) to obtain morphological/angiographic evaluation as well as normalized cortical brain volume and resting‐state functional MRI. Fazekas score was applied to quantify white matter lesions, whereas Smoker's criteria were used to examine dolichoectasia. A complete neuropsychological assessment was performed. Results The MRI data showed that 12/21 patients (57%) demonstrated signs of cerebral vasculopathy, with a Fazekas score >2 in 67%. According to Smoker's criteria, 11/21 patients (52%) had a dolichoectasia of the vertebrobasilar system; an intracranial aneurysm was detected in 3/21 patients (14%). Resting‐state functional MRI demonstrated significantly decreased brain connectivity in the salience network with a more relevant reduction in the bilateral middle and superior frontal gyrus. Gray matter atrophy correlated with age and disease duration. A mild impairment in executive functions was also identified. Conclusions In this LOPD cohort the results showed morphological and functional brain alterations with mild neuropsychological dysfunction, mainly in the limb‐girdle muscle weakness group. Cerebrovascular alterations seemed to be not related to common risk factors, suggesting a major role of enzymatic deficiency in the pathogenesis of brain abnormalities.

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Section: Introductionmentioning

confidence: 99%

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

Musumeci¹,

Marıno

Granata³

et al. 2018

Euro J of Neurology

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“…The predominant clinical manifestation is a neuromuscular disease with varying degrees of progression [2, 3]. PD can appear at different ages with varying phenotypes and involvement of different organs.…”

Section: Introductionmentioning

confidence: 99%

Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report

Menzella¹,

Codeluppi

Lusuardi³

et al. 2018

Multidiscip Respir Med

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BackgroundAcute respiratory failure can be triggered by several causes, either of pulmonary or extra-pulmonary origin. Pompe disease, or type II glycogen storage disease, is a serious and often fatal disorder, due to a pathological accumulation of glycogen caused by a defective activiy of acid α-glucosidase (acid maltase), a lysosomal enzyme involved in glycogen degradation. The prevalence of the disease is estimated between 1 in 40,000 to 1 in 300,000 subjects.Case presentationThis case report describes a difficult diagnosis of late-onset Pompe disease (LOPD) in a 52 year old Caucasian woman with acute respiratory failure requiring orotracheal intubation and subsequent tracheostomy for long-term mechanical ventilation 24 h/day. Despite a complex diagnostic process including several blood tests, bronchoscopy with BAL, chest CT, brain NMR, electromyographies, only a muscle biopsy allowed to reach the correct diagnosis.DiscussionThe most frequent presentation of myopathies, including LOPD, is proximal limb muscle weakness. Respiratory related symptoms (dyspnea on effort, reduced physical capacity, recurrent infections, etc.) and respiratory failure are often evident in the later stages of the diseases, but they have been rarely described as the onset symptoms in LOPD. In our case, a third stage LOPD, the cooperation between pulmonologists and neurologists was crucial in reaching a correct diagnosis despite a very complex clinical scenario due to different confounding co-morbidities as potential causes of respiratory failure and an atypical presentation. In this patient, enzyme replacement therapy with infusion of alglucosidase alfa was associated with progressive reduction of ventilatory support to night hours, and recovery of autonomous walking.

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“…The triple quadrupole instrument was optimized for multiple reaction monitoring of mass transitions m/z 114. 1 3 -Cr, Guac, and d 2 -Guac, respectively, as previously described. 23 These experiments Gaps in case ID reflect embedded normal controls (not shown).…”

Section: Methodsmentioning

confidence: 99%

“…2 Severity of this emerging multisystemic and progressive disease correlates best with length of time since onset of symptoms. 3 The nonspecific and variable presentations that overlap with other, more common etiologies explain why Pompe disease is often undiagnosed in older patients. But efforts to increase understanding and awareness of this previously untreatable condition have been under way since 2006, when recombinant human GAA was approved by the US Food and Drug Administration as enzyme replacement therapy.…”

Section: Introductionmentioning

confidence: 99%

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

Tortorelli

Eckerman

Orsini

et al. 2018

Genetics in Medicine

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The emerging phenotype of late-onset Pompe disease: A systematic literature review

Cited by 150 publications

References 122 publications

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

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