title: [Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease].
abstract: Pompe's disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase.
  
  
  OBJECTIVE
  Authors analyzed the phenotype of 11 Hungarian patients with Pompe's disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients.
  
  
  RESULTS
  One patient with atypical infantile form presented with cardiomyopathy and a very slow progression of motor deficits; after 2 years of enzyme replacement therapy no disability was present at the age 6 years. Another patient was asymptomatic at the age of 2.5 years. The adult onset form was characterized by slight to prominent limb-girdle myopathy with an age of onset between 20 and 50 years. In 3 of such cases respiratory insufficiency was also present.
  
  
  CONCLUSIONS
  Hungarian patients with Pompe's disease presented with a wide phenotypic variability ranging from atypical early childhood form with slowly progressive course to late-onset limb-girdle myopathy with variable courses. Enzyme replacement therapy resulted in significant improvement in motor and respiratory functions in most of the patients.
authors.affiliation: Semmelweis Egyetem, Általános Orvostudományi Kar Neurológiai Klinika, Molekuláris Neurológiai Klinikai és Kutatási Központ, Ritka Betegségek Központja, Budapest. bereznaib@neur.sote.hu
authors.forename: Benjamin
authors.initials: B
authors.lastname: Bereznai
authors.forename: Anita
authors.initials: A
authors.lastname: Trauninger
authors.forename: Ilona
authors.initials: I
authors.lastname: György
authors.forename: Katalin
authors.initials: K
authors.lastname: Szakszon
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Almássy
authors.forename: Endre
authors.initials: E
authors.lastname: Pál
authors.forename: Agnes
authors.initials: A
authors.lastname: Herczegfalvi
authors.forename: Katalin
authors.initials: K
authors.lastname: Várdi Visy
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Illés
authors.forename: Mária Judit
authors.initials: MJ
authors.lastname: Molnár
mesh_terms: D000328:Adult; D017668:Age of Onset; D002245:Carbon Dioxide / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D005541:Forced Expiratory Volume; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D006814:Hungary; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000378:metabolism; D010641:Phenotype; D012131:Respiratory Insufficiency / Q000201:enzymology / Q000209:etiology* / Q000503:physiopathology; D013997:Time Factors; D000520:alpha-Glucosidases / Q000172:deficiency* / Q000235:genetics / Q000627:therapeutic use*
chemical_list: D002245:Carbon Dioxide; D000520:alpha-Glucosidases; D010100:Oxygen