Flemming Winther Bach

Screening for late-onset Pompe disease in western Denmark

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DOI

  • Julie Schjødtz Hansen
  • E G Pedersen, Department of Neurology, Odense University Hospital, Denmark.
  • ,
  • D Gaist, Department of Neurology, Odense University Hospital, Denmark.
  • ,
  • Flemming Winther Bach
  • O J Vilholm, Department of Neurology, Lillebaelt Hospital, Vejle Hospital, Vejle, Denmark.
  • ,
  • B Sandal, Department of Neurology, Regional Hospital West Jutland, Holstebro Hospital, Holstebro, Denmark.
  • ,
  • L Weitemeyer, Neurological Research Unit and Department of Neurology, Soenderborg Hospital, Soenderborg, Denmark; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • ,
  • K Nielsen, Department of Neurology, Esbjerg Hospital, Esbjerg
  • ,
  • F E Schlesinger, Department of Neurology, Regional Hospital Central Jutland, Viborg Hospital, Viborg, Denmark.
  • ,
  • Nicolai Preisler, Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet
  • ,
  • J Vissing, Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet
  • ,
  • Henning Andersen

OBJECTIVE: Late-onset Pompe disease (LOPD) is a rare autosomal recessively inherited metabolic myopathy caused by reduced activity of the lysosomal enzyme alpha-glucosidase. In a previous screening study at two large neuromuscular university clinics in Denmark, three patients with LOPD were identified out of 103 patients screened. No systematic screening has been performed at the other neurological departments in the western part of Denmark. Thus, patients with a diagnosis of unspecified myopathy were screened for LOPD.

MATERIALS AND METHODS: At seven neurological departments in the western part of Denmark, medical records were evaluated for all patients registered with myopathy diagnosis codes (ICD 10 codes: G 71.0-71.9 and G 72.0-72.9) during the period January 1, 2002, to December 31, 2012. If no specific diagnosis has been reached, patients were invited for screening. Dried blood spot (DBS) test was used to analyze the activity of the enzyme alpha-glucosidase.

RESULT: A total of 654 patients were identified. From the medical records, information was obtained concerning symptoms, family history, electromyography, muscle biopsy results and creatine kinase levels. Eighty-seven patients (13.3%) (males 61%) at a mean age of 53.3 years (SD 16.5) fulfilled the criteria for screening. A DBS test was performed in 47 (54%) patients. In all patients, the enzyme activity was within reference values.

CONCLUSION: None of the screened patients had a reduced activity of the enzyme alpha-glucosidase. Although the cohort studied was small, our findings do not suggest that LOPD is underdiagnosed in patients with unspecified myopathy in western Denmark.

OriginalsprogEngelsk
BogserieActa Neurologica Scandinavica. Supplementum
Vol/bind137
Nummer1
Sider (fra-til)85-90
ISSN0065-1427
DOI
StatusUdgivet - jan. 2018

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