Making diagnosis of Pompe disease at a presymptomatic stage: To treat or not to treat?

Laloui, K.; Wary, C.; Carlier, Robert‐Yves; Hogrel, Jean‐Yves; Caillaud, Catherine; Laforêt, Pascal

doi:10.1212/wnl.0b013e318228c0ea

Cited by 22 publications

(15 citation statements)

References 7 publications

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“…It is well known that the late onset form of Pompe disease is quite heterogeneous, with a wide clinical spectrum and no definite correlation between the severity of either skeletal muscle involvement, respiratory distress or morphological features and GAA residual activity [24]. In fact, in our cohort, GAA residual activity did not show significant differences among the two HLP and NHLP groups (p=0.34).…”

Section: Discussioncontrasting

confidence: 72%

Auditory system involvement in late onset Pompe disease: A study of 20 Italian patients

Musumeci

Catalano

Barca

et al. 2012

Molecular Genetics and Metabolism

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Section: Discussioncontrasting

confidence: 72%

Auditory system involvement in late onset Pompe disease: A study of 20 Italian patients

Musumeci

Catalano

Barca

et al. 2012

Molecular Genetics and Metabolism

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“…For the latter patients and their parents this implies a constant awareness of a pre-symptomatic stage of the disease, while some cases may remain asymptomatic until the age of 70. Possible consequences for these so-called "patients in waiting" [36] have been discussed elsewhere [16,17] as well as views of the public on this dilemma [37]. Most of the current neonatal screening programs are aimed at detecting conditions that require immediate treatment.…”

Section: Discussionmentioning

confidence: 99%

“…It is already known that including Pompe disease in neonatal screening programs without being able to filter for classic infantile Pompe disease raises many social, ethical and legal issues [16,17]. Analytic validity of various methods is being compared elsewhere [18,19] and information on clinical utility will evolve from experiences with implemented programmes.…”

Section: Introductionmentioning

confidence: 99%

Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

Rigter

Weinreich

et al. 2012

Molecular Genetics and Metabolism

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Since the introduction of enzyme replacement therapy for Pompe disease, awareness and early diagnosis have gained importance. Because the therapy is most effective when started early and methods for dried bloodspot screening for Pompe disease are currently being explored, neonatal screening is getting increased attention. The objective of this study was to investigate the gains that might be achieved with earlier diagnosis by neonatal screening. For this purpose we analyzed the health and functional status of non-screened patients with Pompe disease at the time of diagnosis. Previously collected clinical data and results of an international patient-reported questionnaire were used. Cross-sectional data of 53 patients with Pompe disease diagnosed between 1999 and 2009 (aged 0-64 years) were analyzed. According to the World Health Organization's International Classification of Functioning, Disability and Health the following domains are described: body function, activity, participation and contextual factors. In all patients with classic infantile Pompe disease cardiac function, hearing, muscle strength and motor development were considerably impaired at the time of clinical diagnosis. The use of oxygen and/or nasogastric tube-feeding was reported in more than 70% of these cases. Most children, adolescents and adults had advanced muscle weakness and impaired respiratory function at the time of their diagnosis, causing varying degrees of handicap. About 12% of them used a walking device and/or respiratory support at the time of diagnosis. The severely impaired health status reported here provides a strong argument for earlier diagnosis and to further explore the potential of neonatal screening for Pompe disease.

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“…The results were modest but important considering the slow but inexorable progression of the disease [154]. One question remains unanswered: whether to start ERT in presymptomatic late-onset patients [155].…”

Section: Clinical Presentationmentioning

confidence: 91%

Metabolic Myopathies

DiMauro

Akman

Paradas

2013

Neuromuscular Disorders in Clinical Practice

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IntroductionInborn errors of glycogen and fatty acid metabolism that cause exclusively or predominantly neuromuscular disorders are characterized by dynamic or static symptoms. Dynamic symptoms are acute, recurrent, reversible muscle dysfunctions, manifesting as exercise intolerance, myalgia with or without painful cramps (contractures), and often culminating in muscle breakdown and myoglobinuria. In contrast, static symptoms are manifested by fixed, often progressive weakness, sometimes simulating dystrophic or neurogenic processes ( Fig. 63.1).To understand glycogen and lipid storage disorders, a brief review of muscle metabolism at rest and during exercise is helpful.The "fuel" utilized by muscle depends on several factors, most importantly the type, intensity, and duration of exercise but also diet and physical conditioning. At rest, muscle utilizes predominantly fatty acids. At the opposite end of the spectrum, the energy for extremely intense exercise (close to one's maximal oxygen uptake, or VO 2 max, in dynamic exercise or close to maximal force generation in isometric exercise) derives from anaerobic glycolysis, especially when there is a "burst" of activity with rapid acceleration to maximal exercise. During submaximal exercise, the type of fuel utilized by muscle depends on the relative intensity of exertion. At low intensity (below 50 % VO 2 max), blood glucose and free fatty acids (FFA) are the primary sources of energy. At higher intensities, the proportion of energy derived from carbohydrate oxidation increases, and muscle glycogen becomes an important fuel; at 70-80 % VO 2 max, aerobic metabolism of glycogen is the crucial source of energy, and fatigue appears to set in when glycogen is exhausted. The type of circulating substrate utilized during mild exercise varies with time, and there is a gradual increase in the utilization of FFA over glucose until, a few hours into

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Making diagnosis of Pompe disease at a presymptomatic stage: To treat or not to treat?

Cited by 22 publications

References 7 publications

Auditory system involvement in late onset Pompe disease: A study of 20 Italian patients

Auditory system involvement in late onset Pompe disease: A study of 20 Italian patients

Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

Metabolic Myopathies

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