Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Müller‐Felber, Wolfgang; Horvath, Rita; Gempel, Klaus; Podskarbi, T.; Shin, Yoon S.; Pongratz, D.; Walter, Maggie C.; Baethmann, Martina; Schlotter‐Weigel, Beate; Lochmüller, Hanns; Schöser, Benedikt

doi:10.1016/j.nmd.2007.06.002

Cited by 218 publications

(206 citation statements)

References 30 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: 65%

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: 65%

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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“…patient denial, unspecific symptoms, and the rareness of the disease, but the role of the GP as gatekeeper must be underlined as well [21]. Besides rareness, the clinical variability also hampers rapid diagnosis in individuals of many RD [22][23][24]. New systems to remind medical gatekeepers of rare diseases are highly needed, as underlined by multiple reports addressing different disease groups [25][26][27].…”

Section: Discussionmentioning

confidence: 99%

Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition? (Preprint)

Grigull¹,

Mehmecke²,

Rother³

et al. 2018

Preprint

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Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Cited by 218 publications

References 30 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

Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition? (Preprint)

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