Clinical features of late‐onset Pompe disease: A prospective cohort study

Wokke, John H. J.; Escolar, Diana M.; Pestronk, Alan; Jaffe, Kenneth M.; Carter, Gregory T.; Berg, Leonard H. van den; Florence, Julaine; Mayhew, J.; Skrinar, Alison; Corzo, Deyanira; Laforêt, Pascal

doi:10.1002/mus.21025

Cited by 153 publications

(155 citation statements)

References 45 publications

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“…The present report also stresses the importance of considering late-onset PD among the differential diagnosis of limb-girdle muscle weakness [15][16][17] . As the reliability of CK level is low, since values vary broadly in PD 8 , and muscle biopsy may be normal in up to 30% in late-onset PD 18 , more specific testing is fundamental for the diagnosis.…”

Section: Discussionmentioning

confidence: 62%

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease

Grzesiuk

Oba-Shinjo

Silva

et al. 2010

Arq. Neuro-Psiquiatr.

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Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and lateonset forms are described, differing by the age of onset and symptoms. In this study were analyzed affected siblings with Pompe's disease (PD) and their distinct clinical and pathological presentations. Method: Diagnosis was performed by the clinical presentation of limb-girdle dystrophies and respiratory compromise. Confirmatory diagnoses were conducted by muscle biopsy, GAA activity measurement and by GAA gene genotyping. results: The findings suggested muscular involvement due to GAA deficiency. GAA genotyping showed they are homozygous for the c.-32-3C>A mutation. conclusion: Herein we reported a family where three out of five siblings were diagnosed with late-onset PD, although it is a rare metabolic disease inherited in an autossomal recessive manner. We emphasize the importance of including this presentation within the differential diagnoses of the limb-girdle dystrophies once enzyme replacement therapy is available.

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Section: Discussionmentioning

confidence: 62%

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease

Grzesiuk

Oba-Shinjo

Silva

et al. 2010

Arq. Neuro-Psiquiatr.

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“…In published reports pulmonary function measured by vital capacity declines by a mean of 1.6-4.6% per year [32,33] and assisted ventilation is commenced 15.1-19.4 years after the first symptoms of disease i.e., skeletal muscle weakness with loss of ambulation, development of respiratory failure and scoliosis from truncal weakness [5,34]. Additionally, diaphragm weakness has previously been shown to occur in 38% of untreated patients with Pompe disease with a decrease of Vital Capacity (VC) in sitting and supine positions of 0.9 and 1.2% points per year [29], respectively.…”

Section: Discussionmentioning

confidence: 99%

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Stępień

Hendriksz

Roberts

et al. 2016

Molecular Genetics and Metabolism

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Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA). The late-onset Pompe Disease (LOPD) patients develop muscular and respiratory complications later in life. We describe a retrospective observational cohort study including 22 patients with LOPD. The cohort was assessed at baseline before Enzyme Replacement Therapy (ERT) with alglucosidase alpha (20 mg/kg biweekly) was com-menced and subsequently relevant information was collected at 2, 4 and 5 years later. The median age of the patients at study entry was 44 years (16-64 years), with median disease duration of 11.5 years (4-31 years). At baseline, 10 patients (45%) could walk without support, 12 (55%) could walk with unilateral or bilateral sup-port including 3/12 were wheelchair bound. Mean predicted FVC % was 55.7 (95% CI 45-66) of predicted normal at baseline and showed no significant change after 5 years (54.6 (95% CI 43-66)), (all p = 0.9815). Mean FVC %supine was 41.8 (95% CI 33.8-49) of predicted normal at baseline and remained significantly unchanged at 5 years (48.4 (95% CI 37-59.6)), (all p = 0.8680). The overnight non-invasive ventilator dependence increased by 18.2% as compared with baseline and requirement of mobility aids increased during this period by 5.2% as compared with the baseline. Mean walking distance at 6 min walk test was 411.5 (95% CI 338-485) at baseline, 266.5 (95% CI 187-346) m at 2 years, 238.6 (95% CI 162-315) m at 4 years and 286.8 (95% CI 203-370) m at 5 years (p = 0.1981; ANOVA was completed only for 14 patients). A gradual decline in FVC% predicted was noted only in four cases and a decline in FVC% supine in two other. Only one patient showed a decline in both pulmonary function tests. In all remaining cases (17/22) respiratory function remains stable. In conclusion overall pulmonary function tests and mobility remained stable for 5 years in majority of patients on ERT. However, in some patients they continued to decline in spite of ERT resulting in increased number of patients requiring ventilation and increase wheel chair dependence at the end of 5 years.

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“…In addition to describing LUTS and incontinence in this population, we were also able to look at the impact of these symptoms on quality of life. Several studies have looked at QOL in LOPD and have found that it is greatly affected by the disease state (Hagemans et al 2004(Hagemans et al , 2005Wokke et al 2008). There is also literature that shows a decrease in QOL secondary to urinary symptoms within other populations (Naughton et al 2004;Basra and Kelleher 2007;Howard and Steggall 2010).…”

Section: Discussionmentioning

confidence: 99%

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

et al. 2014

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Objective: To study the prevalence of lower urinary tract symptoms (LUTS) and incontinence in lateonset Pompe disease (LOPD)Methods: Adult LOPD patients seen at the Duke Pompe Clinic were prospectively recruited and asked to complete validated questionnaires on LUTS and incontinence as part of an IRB-approved study. Patient demographics as well as previous urologic history were reviewed.Results: 35 patients with LOPD were included in the study (17 males and 18 females). The median age was 51.8 (range 18-72 years of age). Of these patients, 27/35 were receiving enzyme replacement therapy (ERT) with median duration of 54 months (range 5-88 months). In the male patients, 9/17 (53%) described their stream as dribbling, weak, or intermittent, and 9/17 (53%) complained of postvoid dribbling. In addition 38% of the men were unable to stop their urination midstream. In the female patients, the most common complaint was urinary incontinence, reported in 14/18 (78%). In addition, 7/18 (39%) complained of post-void dribbling, and 47% were unable to stop their urination midstream. Bowel incontinence was reported in 45% of patients. There was a significant association between urinary symptoms and lower extremity function scores and duration of ERT (p ¼ 0.005 and p ¼ 0.04, respectively)Conclusions: This is the first study in a large cohort of LOPD patients that demonstrates LUTS and incontinence occur at a high rate. This study emphasizes the spectrum of LOPD is beyond isolated gross motor and pulmonary involvement and has a significant effect on the lower urinary tract.

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Clinical features of late‐onset Pompe disease: A prospective cohort study

Cited by 153 publications

References 45 publications

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

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