A 72-year-old, seemingly healthy, Japanese man suddenly lost consciousness. At the emergency room, the patient's Glasgow coma scale score was 10 and a thoracic breathing pattern was observed. An arterial blood gas analysis indicated acute hypercarbic respiratory failure. He was placed on non-invasive positive pressure ventilation. The next day he was alert. Manual muscle testing revealed that his face, neck and limb muscle strength were normal. He could walk, and Gowers' sign was not observed. Computed tomography showed atrophy of the paravertebral, abdominal wall and diaphragm crura muscles, without apparent limb muscle involvement. Pompe's disease was diagnosed based on the results of biochemical and genetic tests for acid alpha-glucosidase.
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Sensory neuropathy in patients with Pompe disease: a case series in Iran.
BMC Musculoskelet Disord
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Physical medicine & rehabilitation research center, School of medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.
Aims: This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.
A novel CD71 Centyrin:Gys1 siRNA conjugate reduces glycogen synthesis and glycogen levels in a mouse model of Pompe disease.
Mol Ther
November 2024
Center for Medical Education, Ball State University, Muncie, IN 47306, USA; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine-Muncie, Muncie, IN 47303, USA. Electronic address:
Article Synopsis
- Pompe disease results from a deficiency in acid alpha-glucosidase, leading to muscle weakness, respiratory issues, and cardiomyopathy in infants; the only current treatment is enzyme replacement therapy (ERT).
- A new approach using a Centyrin protein-conjugated short interfering RNA (siRNA) targets the transferrin receptor (CD71) and the GYS1 enzyme to inhibit glycogen synthesis, potentially restoring glycogen balance instead of just degrading it.
- In tests on a Pompe mouse model, this novel siRNA conjugate effectively reduced GYS1 levels and glycogen accumulation, improving exercise performance, indicating its promise as a therapy for late-onset Pompe disease or in combination with ERT for infants.
[Importance of early treatment and quantitative evaluation of enzyme replacement therapy for Pompe disease: alglucosidase alfa post-marketing surveillance additional analysis].
Rinsho Shinkeigaku
December 2024
Rare Diseases Medical, Specialty Care Medical, Sanofi K.K.
We conducted an additional analysis using the data from the post-marketing surveillance of Alglucosidase alfa for Pompe disease. We aimed to investigate the changes in the percentage of predicted forced vital capacity (%FVC) and the changes in the distance of the 6-min walk test (6MWT) by overall improvement and to investigate the %FVC change by the duration from symptom onset to survey registration (shorter/longer groups) using a linear mixed model. Thirty-seven and eighteen survey participants had %FVC and 6MWT data available, respectively; of the patients whose overall improvement was rated as "relatively improved," %FVC and 6MWT worsened in 71.
View Article and Find Full Text PDFHome infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials.
Mol Genet Metab
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Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Article Synopsis
- In three clinical trials involving 142 participants with Pompe disease, 17 were deemed suitable for home infusion of avalglucosidase alfa, receiving a total of 419 supervised infusions.
- The majority of participants with late-onset Pompe disease (LOPD) experienced non-serious adverse events, while those with infantile-onset Pompe disease (IOPD) did not report any adverse effects.
- The safety and adverse event rates during home infusion were comparable to those during clinic infusions, indicating that home administration is feasible and safe for stable patients with a prior good infusion history.
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
J Patient Rep Outcomes
November 2024
ERN-NMD Center for Neuromuscular Disorders of Messina, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Article Synopsis
- - The PROPEL trial studied the effects of cipaglucosidase alfa plus miglustat (cipa+mig) versus alglucosidase alfa plus placebo (alg+pbo) on adults with late-onset Pompe disease (LOPD) over 52 weeks, finding improvements in motor and respiratory function for those switching to cipa+mig.
- - Patient-reported outcomes (PROs) evaluated included various measures of physical function, fatigue, and overall quality of life, with statistical analyses comparing responses between the two treatment groups.
- - Results showed that cipa+mig significantly improved patient-reported impressions of change in ability to move around and generally outperformed alg+pbo in most PRO measures, indicating enhanced
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