Screening for late‐onset Pompe disease in Poland

• Published in: Acta neurologica Scandinavica Vol. 140; no. 4; pp. 239 - 243
• Main Authors: Jastrzębska, Aleksandra, Potulska‐Chromik, Anna, Łusakowska, Anna, Jastrzębski, Miłosz, Lipowska, Marta, Kierdaszuk, Biruta, Kamińska, Anna, Kostera‐Pruszczyk, Anna
• Format: Journal Article
• Language: English
• Published: Denmark Hindawi Limited 01-10-2019
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Cohort Studies; Creatine kinase; Dried Blood Spot Testing - methods; dry blood spot; Dyspnea; Female; Frameshift mutation; Genetic screening; Genetic Testing - methods; Glycogen Storage Disease Type II - blood; Glycogen Storage Disease Type II - diagnosis; Glycogen Storage Disease Type II - epidemiology; Glycogen Storage Disease Type II - genetics; glycogen storage type 2; Heterozygotes; high CK; Humans; limb‐girdle; Male; Mass spectroscopy; Middle Aged; Muscular Dystrophies, Limb-Girdle - blood; Muscular Dystrophies, Limb-Girdle - diagnosis; Muscular Dystrophies, Limb-Girdle - epidemiology; Muscular Dystrophies, Limb-Girdle - genetics; Mutation; Mutation - genetics; Myalgia; Poland - epidemiology; Pompe disease; Respiration; screening; Serum levels; Young Adult; α-Glucosidase; Poland; Pompe disease; limb-girdle; screening; dry blood spot; glycogen storage type 2; high CK
• ISSN: 0001-6314; 1600-0404
• DOI: 10.1111/ane.13133

Objectives
We aimed to screen for late‐onset Pompe disease using the dried blood spot (DBS) test in a cohort of patients with limb‐girdle muscle weakness or persistent hyperCKemia.
Materials and methods
Patients with limb‐girdle muscle weakness, persistently elevated CK, rigid spine syndrome, dyspnoea, myalgia or sibling of the patient diagnosed with LOPD were included in the study. Acid α‐glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry and followed by genetic testing when required. Study was conducted between June 2014 and May 2017.
Results
A total of 337 patients aged 32.2 years (range 2‐80) were included in the study. Late‐onset Pompe disease was diagnosed in 10 patients (3.0% of tested cohort). All were compound heterozygotes with common c.32‐13T>G mutation on one allele and missense or frameshift mutation on the other. Two of the mutations (c.1951delG and c.397T>G) were not reported previously. Seven of the patients started enzyme replacement therapy.
Conclusions
DBS test is a reliable method for screening for late‐onset Pompe disease.