Screening for late-onset Pompe disease in western Denmark

J S Hansen, E G Pedersen, D Gaist, F W Bach, O J Vilholm, B Sandal, L Weitemeyer, K Nielsen, F E Schlesinger, N Preisler, J Vissing, H Andersen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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
TidsskriftActa Neurologica Scandinavica
Vol/bind137
Udgave nummer1
Sider (fra-til)85-90
ISSN0001-6314
DOI
StatusUdgivet - jan. 2018

Fingeraftryk

Glycogen Storage Disease Type II
Denmark
Muscular Diseases
alpha-Glucosidases
International Classification of Diseases
Enzymes
Medical Records
Late Onset Disorders
Electromyography
Reference Values

Citer dette

Hansen, J. S., Pedersen, E. G., Gaist, D., Bach, F. W., Vilholm, O. J., Sandal, B., ... Andersen, H. (2018). Screening for late-onset Pompe disease in western Denmark. Acta Neurologica Scandinavica, 137(1), 85-90. https://doi.org/10.1111/ane.12811
Hansen, J S ; Pedersen, E G ; Gaist, D ; Bach, F W ; Vilholm, O J ; Sandal, B ; Weitemeyer, L ; Nielsen, K ; Schlesinger, F E ; Preisler, N ; Vissing, J ; Andersen, H. / Screening for late-onset Pompe disease in western Denmark. I: Acta Neurologica Scandinavica. 2018 ; Bind 137, Nr. 1. s. 85-90.
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title = "Screening for late-onset Pompe disease in western Denmark",
abstract = "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.",
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author = "Hansen, {J S} and Pedersen, {E G} and D Gaist and Bach, {F W} and Vilholm, {O J} and B Sandal and L Weitemeyer and K Nielsen and Schlesinger, {F E} and N Preisler and J Vissing and H Andersen",
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Hansen, JS, Pedersen, EG, Gaist, D, Bach, FW, Vilholm, OJ, Sandal, B, Weitemeyer, L, Nielsen, K, Schlesinger, FE, Preisler, N, Vissing, J & Andersen, H 2018, 'Screening for late-onset Pompe disease in western Denmark', Acta Neurologica Scandinavica, bind 137, nr. 1, s. 85-90. https://doi.org/10.1111/ane.12811

Screening for late-onset Pompe disease in western Denmark. / Hansen, J S; Pedersen, E G; Gaist, D; Bach, F W; Vilholm, O J; Sandal, B; Weitemeyer, L; Nielsen, K; Schlesinger, F E; Preisler, N; Vissing, J; Andersen, H.

I: Acta Neurologica Scandinavica, Bind 137, Nr. 1, 01.2018, s. 85-90.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Screening for late-onset Pompe disease in western Denmark

AU - Hansen, J S

AU - Pedersen, E G

AU - Gaist, D

AU - Bach, F W

AU - Vilholm, O J

AU - Sandal, B

AU - Weitemeyer, L

AU - Nielsen, K

AU - Schlesinger, F E

AU - Preisler, N

AU - Vissing, J

AU - Andersen, H

N1 - © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2018/1

Y1 - 2018/1

N2 - 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.

AB - 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.

KW - Denmark

KW - alpha-glucosidase deficiency

KW - glycogen storage disease

KW - late-onset Pompe disease

KW - myopathy

KW - neuromuscular disorders

KW - screening

U2 - 10.1111/ane.12811

DO - 10.1111/ane.12811

M3 - Journal article

VL - 137

SP - 85

EP - 90

JO - Acta Neurologica Scandinavica

JF - Acta Neurologica Scandinavica

SN - 0001-6314

IS - 1

ER -