Introduction Pompe disease primarily affects skeletal and cardiac muscles. It is difficult to assess therapeutic efficacy of enzyme replacement therapy (ERT) using primary end points based on changes in weakness of large limb-girdle muscles, gait-endurance, and respiratory function, which all depend on variable day-to-day patient performance. In contrast, muscle improvement might be shown by as...

Analysis of the time series obtained with the Doppler backscattering system (Hillsheim et al 2009 Rev. Sci. Instrum. 80 0835070) in the DIII-D tokamak (Luxon 2005 Fusion Sci. Technol. 48 828) shows that intermediate wave number plasma density fluctuations in low confinement (L-mode) tokamak plasmas are chaotic. The supporting evidence is based on the shape of the power spectrum; the location of...

Introduction This 12-month audit (conducted between 1 July 2011 to 30 June 2012) was designed following a retrospective audit in a specialist neuromuscular centre (UK) using DBS testing to identify late-onset Pompe disease. The objective was to screen all patients with an unknown diagnosis presenting with a limb girdle pattern of muscle weakness +/respiratory symptoms +/scoliosis +/rigid spine ...

We present the cerebral MR findings of a 5-month-old girl with biopsy-proved Pompe disease and discuss the imaging characteristics with known central nervous system disease.

Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) in Pompe disease is moderately effective and a life-long therapy is warranted. Clinical investigations of temporary ERT interruption are lacking, but might be of clinical signifi cance (i.e. due to patient’s wish, adherence issues, holidays, or problems with drug supply). In Switzerland, ERT for Pompe disease was...

BACKGROUND Pompe disease is a rare lysosomal storage disorder characterized by muscle weakness and wasting. The majority of adult patients have slowly progressive disease, which gradually impairs mobility and respiratory function and may lead to wheelchair and ventilator dependency. It is as yet unknown to what extent the disease reduces the life span of these patients. Our objective was to det...

Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-glucosidase (GAA) activity due to mutations in the GAA gene. Pompe disease is characterized by accumulation of lysosomal glycogen primarily in heart and skeletal muscles, which leads to progressive muscle weakness. We have shown previously that the small molecule pharmacological chaperone AT2220 (1...

Deficiency of acid alpha glucosidase (GAA) causes Pompe disease, which is usually fatal if onset occurs in infancy. Patients synthesize a non-functional form of GAA or are unable to form native enzyme. Enzyme replacement therapy with recombinant human GAA (rhGAA) prolongs survival in infantile Pompe patients but may be less effective in cross-reactive immunologic material (CRIM)-negative patien...

Pompe disease is a lysosomal storage disorder in which acid alpha-glucosidase (GAA) is deficient or absent. Deficiency of this lysosomal enzyme results in progressive expansion of glycogen-filled lysosomes in multiple tissues, with cardiac and skeletal muscle being the most severely affected. The clinical spectrum ranges from fatal hypertrophic cardiomyopathy and skeletal muscle myopathy in inf...

how to cite this article: tonekaboni s.h. juvenile pompe. iran j child neurol autumn 2012; 6:4 (suppl. 1):10.   pls see pdf.