Respiratory failure as initial symptom of acid maltase deficiency.

Keunen, R.W.M.; Lambregts, P.C.L.A.; Coul, A A Op de; Joosten, E.M.G.

doi:10.1136/jnnp.47.5.549

Cited by 46 publications

(27 citation statements)

References 10 publications

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“…Although the pattern of muscle weakness is variable, a rough correlation has been observed between measures of pulmonary function and proximal muscle weakness, particularly in the lower extremities 47. Diaphragmatic involvement can be an early and prominent finding in Pompe disease and respiratory failure often develops while patients are still ambulatory; it may even be the initial clinical manifestation of the disease 35,46,48–50. Diaphragm weakness may be characterized by a decrease in the vital capacity (VC) while the patient is in the supine versus prone position (a 10% decrease in VC indicates diaphragmatic weakness; a 30% decrease indicating severe weakness) 50.…”

Section: Pulmonarymentioning

confidence: 99%

Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

504

583

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Section: Pulmonarymentioning

confidence: 99%

Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

504

583

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“…Respiratory failure has been found in about one third of patients with late-onset Pompe's disease [2,5,6]. In a recent questionnaire study in 54 patients of the Dutch Neuromuscular Diseases Association, registered has having late-onset Pompe's disease, HAGEMANS et al [29] found that 20 patients used ventilatory assistance, having started at a mean age of 49 yrs, and that 23 patients used a wheelchair, starting at a mean age of 46 yrs.…”

Section: Discussionmentioning

confidence: 99%

“…However, both the presenting symptoms and the clinical outcomes in adults seem to vary widely. Although respiratory muscle involvement is rarely inaugural [5,6], it may occur early in the course of the disease and may cause death. These characteristics, and the likelihood that new treatments recently tested in infantile and juvenile Pompe's disease [7][8][9][10] will require evaluation in adult-onset disease, indicate a need for investigations into the relationships between respiratory muscle weakness and weakness in other muscles.…”

mentioning

confidence: 99%

Respiratory insufficiency and limb muscle weakness in adults with Pompe’s disease

Pellegrini¹

2005

Eur Respir J

105

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The objective of the present study was to prospectively evaluate relationships linking age, respiratory function and locomotor function in 29 outpatients with late-onset Pompe's disease and to retrospectively determine clinical outcomes.Using univariate regression analysis, vital capacity (VC) was weakly, but significantly, correlated to shoulder motility, Walton score and lower-limb Modified Medical Research Council score. Six patients were able to walk without a walking aid and with only the help of a handrail on the stairs (Walton score53), although VC was ,50%. No parameters were significantly correlated with age.As assessed retrospectively, VC and locomotion deteriorated over time in most patients. In contrast, among the 16 patients started on invasive or noninvasive ventilation with VC monitoring, eight had a VC increase at the first measurement time-point.The absence of correlation with age and the presence, in some patients, of severe respiratory insufficiency without severe limb girdle muscle weakness indicate that respiratory function should be monitored independently from the degree of peripheral muscle weakness. Mechanical ventilation and tracheostomy may improve vital capacity and should, therefore, be taken into account when evaluating treatments for the adult form of Pompe's disease.

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“…Adult GSD II can escape diagnosis if the clinician is not familiar with the various clinical presentations of the disease or has misconceptions regarding the various diagnostic procedures that should be performed [10]. Patients with adult GSD II may also escape diagnosis when they present with acute respiratory insufficiency as their first clinical symptom [18]. …”

Section: Discussionmentioning

confidence: 99%

Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency

Ausems

Berg

Kroos³

et al. 1999

Public Health Genomics

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Objectives: To compare the overall birth prevalence of diagnosed glycogen storage disease type II (GSD II) with the predicted frequency based on mutation screening, in order to determine whether GSD II is an underdiagnosed condition, and to analyze which medical disciplines recognize GSD II. Methods: Retrospective data on all enzymatic diagnoses of GSD II were collected from diagnostic labs throughout the Netherlands, covering the period from January 1, 1972 to December 31, 1996. Age-specific diagnostic incidence rates were calculated for the entire study period. By adding together the diagnostic incidences for all age groups, we calculated the birth prevalence of diagnosed GSD II and compared these figures with the predicted frequency based on mutation screening in a random sample from the general population. The medical specialization of the referring clinicians was also recorded. Results: GSD II was diagnosed in 154 individuals, including 11 prenatal diagnoses. The birth prevalences of the various phenotypes were 1/101,000 (infantile form), 1/720,000 (juvenile form) and 1/53,000 (adult form). The birth prevalence of the adult and infantile phenotype together was 1/35,000. Eighty-two percent of the patients were diagnosed in university hospitals. Of the patients with infantile GSD II, 71% were diagnosed by a pediatrician, whereas most patients with adult GSD II were diagnosed by a neurologist (80%). Conclusions: There is no evidence for the underdiagnosis of GSD II in the Netherlands, as the calculated birth prevalences of the disease are consistent with previous predictions based on mutation screening in a random sample of newborns. The worldwide birth prevalence of the disease may well be higher than 1 in 100,000. GSD II is mainly diagnosed in university hospitals.

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Respiratory failure as initial symptom of acid maltase deficiency.

Abstract: , during the period 1970-1982. Five of these patients developed respiratory failure, and in four this was the initial symptom. The occurrence of respiratory failure as an early symptom of this muscular disease is discussed.

Cited by 46 publications

References 10 publications

Pompe disease diagnosis and management guideline

Pompe disease diagnosis and management guideline

Respiratory insufficiency and limb muscle weakness in adults with Pompe’s disease

Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency

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