Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

E Gutiérrez-Rivas; J Bautista; J J Vílchez; N Muelas; J Díaz-Manera; I Illa; A Martínez-Arroyo; M Olivé; I Sanz; J Arpa; R Fernández-Torrón; A López de Munáin; L Jiménez; J Solera; Z Lukacs

doi:10.1016/j.nmd.2015.04.008

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood

Standard

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood : A Spanish cohort. / Gutiérrez-Rivas, E; Bautista, J; Vílchez, J J; Muelas, N; Díaz-Manera, J; Illa, I; Martínez-Arroyo, A; Olivé, M; Sanz, I; Arpa, J; Fernández-Torrón, R; López de Munáin, A; Jiménez, L; Solera, J; Lukacs, Z.

In: NEUROMUSCULAR DISORD, Vol. 25, No. 7, 07.2015, p. 548-53.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Gutiérrez-Rivas, E, Bautista, J, Vílchez, JJ, Muelas, N, Díaz-Manera, J, Illa, I, Martínez-Arroyo, A, Olivé, M, Sanz, I, Arpa, J, Fernández-Torrón, R, López de Munáin, A, Jiménez, L, Solera, J & Lukacs, Z 2015, 'Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort', NEUROMUSCULAR DISORD, vol. 25, no. 7, pp. 548-53. https://doi.org/10.1016/j.nmd.2015.04.008

APA

Gutiérrez-Rivas, E., Bautista, J., Vílchez, J. J., Muelas, N., Díaz-Manera, J., Illa, I., Martínez-Arroyo, A., Olivé, M., Sanz, I., Arpa, J., Fernández-Torrón, R., López de Munáin, A., Jiménez, L., Solera, J., & Lukacs, Z. (2015). Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. NEUROMUSCULAR DISORD, 25(7), 548-53. https://doi.org/10.1016/j.nmd.2015.04.008

Vancouver

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. NEUROMUSCULAR DISORD. 2015 Jul;25(7):548-53. https://doi.org/10.1016/j.nmd.2015.04.008

Bibtex

@article{e7e704901e8947e1a49684448a2eed6a,

title = "Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort",

abstract = "We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays. Subsequently, we aimed to calculate the diagnostic delay between initial symptom presentation and the diagnosis. A prospective, multicenter, observational study was conducted in 348 patients: 146 with unclassified LGMD and 202 with asymptomatic or paucisymptomatic hyperCKemia. We quantified levels of acid alpha-glucosidase (GAA) from dried blood spots analyzed fluorometrically. The test was positive in 20 patients, and Pompe disease was confirmed by genetic testing in 16. Undiagnosed Pompe disease was detected in 7.5% of patients with LGMD and in 2.5% of patients with persistent, idiopathic elevation of serum creatine kinase. The c.-32-13 T > G mutation was found most commonly. The diagnostic delay was 15 years on average. In conclusion, DBS tests are useful and reliable screening tools for Pompe disease. We recommend the dried blood spot test to be included in the diagnostic work-up of patients with unclassified myopathies with proximal weakness and/or hyperCKemia of unknown cause and, when positive, to define the diagnosis, it will have to be confirmed by biochemical and/or molecular genetic analysis.",

keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Creatine Kinase, Delayed Diagnosis, Dried Blood Spot Testing, Female, Genetic Testing, Glycogen Storage Disease Type II, Humans, Male, Metabolic Diseases, Middle Aged, Muscular Dystrophies, Limb-Girdle, Mutation, Prospective Studies, Young Adult, alpha-Glucosidases, Journal Article, Multicenter Study, Observational Study",

author = "E Guti{\'e}rrez-Rivas and J Bautista and V{\'i}lchez, {J J} and N Muelas and J D{\'i}az-Manera and I Illa and A Mart{\'i}nez-Arroyo and M Oliv{\'e} and I Sanz and J Arpa and R Fern{\'a}ndez-Torr{\'o}n and {L{\'o}pez de Mun{\'a}in}, A and L Jim{\'e}nez and J Solera and Z Lukacs",

year = "2015",

month = jul,

doi = "10.1016/j.nmd.2015.04.008",

language = "English",

volume = "25",

pages = "548--53",

journal = "NEUROMUSCULAR DISORD",

issn = "0960-8966",

publisher = "Elsevier Limited",

number = "7",

}

RIS

TY - JOUR

T1 - Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood

T2 - A Spanish cohort

AU - Gutiérrez-Rivas, E

AU - Bautista, J

AU - Vílchez, J J

AU - Muelas, N

AU - Díaz-Manera, J

AU - Illa, I

AU - Martínez-Arroyo, A

AU - Olivé, M

AU - Sanz, I

AU - Arpa, J

AU - Fernández-Torrón, R

AU - López de Munáin, A

AU - Jiménez, L

AU - Solera, J

AU - Lukacs, Z

PY - 2015/7

Y1 - 2015/7

N2 - We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays. Subsequently, we aimed to calculate the diagnostic delay between initial symptom presentation and the diagnosis. A prospective, multicenter, observational study was conducted in 348 patients: 146 with unclassified LGMD and 202 with asymptomatic or paucisymptomatic hyperCKemia. We quantified levels of acid alpha-glucosidase (GAA) from dried blood spots analyzed fluorometrically. The test was positive in 20 patients, and Pompe disease was confirmed by genetic testing in 16. Undiagnosed Pompe disease was detected in 7.5% of patients with LGMD and in 2.5% of patients with persistent, idiopathic elevation of serum creatine kinase. The c.-32-13 T > G mutation was found most commonly. The diagnostic delay was 15 years on average. In conclusion, DBS tests are useful and reliable screening tools for Pompe disease. We recommend the dried blood spot test to be included in the diagnostic work-up of patients with unclassified myopathies with proximal weakness and/or hyperCKemia of unknown cause and, when positive, to define the diagnosis, it will have to be confirmed by biochemical and/or molecular genetic analysis.

AB - We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays. Subsequently, we aimed to calculate the diagnostic delay between initial symptom presentation and the diagnosis. A prospective, multicenter, observational study was conducted in 348 patients: 146 with unclassified LGMD and 202 with asymptomatic or paucisymptomatic hyperCKemia. We quantified levels of acid alpha-glucosidase (GAA) from dried blood spots analyzed fluorometrically. The test was positive in 20 patients, and Pompe disease was confirmed by genetic testing in 16. Undiagnosed Pompe disease was detected in 7.5% of patients with LGMD and in 2.5% of patients with persistent, idiopathic elevation of serum creatine kinase. The c.-32-13 T > G mutation was found most commonly. The diagnostic delay was 15 years on average. In conclusion, DBS tests are useful and reliable screening tools for Pompe disease. We recommend the dried blood spot test to be included in the diagnostic work-up of patients with unclassified myopathies with proximal weakness and/or hyperCKemia of unknown cause and, when positive, to define the diagnosis, it will have to be confirmed by biochemical and/or molecular genetic analysis.

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Creatine Kinase

KW - Delayed Diagnosis

KW - Dried Blood Spot Testing

KW - Female

KW - Genetic Testing

KW - Glycogen Storage Disease Type II

KW - Humans

KW - Male

KW - Metabolic Diseases

KW - Middle Aged

KW - Muscular Dystrophies, Limb-Girdle

KW - Mutation

KW - Prospective Studies

KW - Young Adult

KW - alpha-Glucosidases

KW - Journal Article

KW - Multicenter Study

KW - Observational Study

U2 - 10.1016/j.nmd.2015.04.008

DO - 10.1016/j.nmd.2015.04.008

M3 - SCORING: Journal article

C2 - 25998610

VL - 25

SP - 548

EP - 553

JO - NEUROMUSCULAR DISORD

JF - NEUROMUSCULAR DISORD

SN - 0960-8966

IS - 7

ER -