schliessen

Filtern

 

Bibliotheken

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

BackgroundPublished genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics.MethodsA cross sectional study was conducted, coll... Full description

Journal Title: Journal of neurology neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.322-121
Main Author: Lucia, Alejandro
Other Authors: Ruiz, Jonatan R , Santalla, Alfredo , Nogales-Gadea, Gisela , Rubio, Juan C , García-Consuegra, Inés , Cabello, Ana , Pérez, Margarita , Teijeira, Susana , Vieitez, Irene , Navarro, Carmen , Arenas, Joaquín , Martin, Miguel A , Andreu, Antoni L
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: London: BMJ Publishing Group Ltd
ID: ISSN: 0022-3050
Zum Text:
SendSend as email Add to Book BagAdd to Book Bag
Staff View
recordid: cdi_swepub_primary_oai_prod_swepub_kib_ki_se_124166326
title: Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry
format: Article
creator:
  • Lucia, Alejandro
  • Ruiz, Jonatan R
  • Santalla, Alfredo
  • Nogales-Gadea, Gisela
  • Rubio, Juan C
  • García-Consuegra, Inés
  • Cabello, Ana
  • Pérez, Margarita
  • Teijeira, Susana
  • Vieitez, Irene
  • Navarro, Carmen
  • Arenas, Joaquín
  • Martin, Miguel A
  • Andreu, Antoni L
subjects:
  • Activities of Daily Living
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Biological and medical sciences
  • Child
  • Cross-Sectional Studies
  • Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
  • Demographic aspects
  • Disease Progression
  • Female
  • Genetic aspects
  • Genotype
  • Genética humana
  • Glycogen Phosphorylase, Muscle Form - genetics
  • Glycogen Storage Disease Type V - genetics
  • Glycogen Storage Disease Type V - pathology
  • Glycogenosis
  • Humans
  • Male
  • Medical sciences
  • Medicin och hälsovetenskap
  • Middle Aged
  • Muscle Weakness - pathology
  • Myoglobinuria - pathology
  • Neurology
  • Patient outcomes
  • Phenotype
  • Registries
  • Spain
  • Young Adult
ispartof: Journal of neurology, neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.322-121
description: BackgroundPublished genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics.MethodsA cross sectional study was conducted, collecting demographic, family history, clinical, genotype and functional capacity data from all patients diagnosed with McArdle disease in the Spanish National Health System up to December 2010.Results239 cases were recorded (all of Caucasian descent, 102 women; mean±SD age 44±18 years (range 9, 93)); prevalence of ∼1/167 000 people. Two mutant PYGM alleles were identified in 99.6% of cases. Although there was heterogeneity in the severity of symptoms, there were four common diagnostic features: (1) 99.5% of patients reported a history of acute crises of exercise intolerance (accompanied by recurrent myoglobinuria in 50% of cases); (2) in 58% of patients, symptoms started in the first decade of life; (3) 86% of patients repeatedly experienced the ‘second wind’ phenomenon over life; and (4) 99% of patients had a high basal serum level of total creatine kinase (>200 U/l). Clinical presentation of the disease was similar in men and women and worsened with age. Patients who were physically active had higher levels of cardiorespiratory fitness (by 23%, p=0.003) and were more likely to improve their clinical course over a 4 year period compared with inactive patients (OR 225; 95% CI 20.3 to 2496.7).ConclusionsThe main clinical features of McArdle disease are generally homogeneous and frequently appear during childhood; clinical condition deteriorates with ageing. Active patients have a better clinical outcome and functional capacity.
language: eng
source:
identifier: ISSN: 0022-3050
fulltext: no_fulltext
issn:
  • 0022-3050
  • 1468-330X
  • 1468-330X
url: Link


@attributes
NO1
SEARCH_ENGINEprimo_central_multiple_fe
SEARCH_ENGINE_TYPEPrimo Central Search Engine
RANK2.6033354
LOCALfalse
PrimoNMBib
record
control
sourceidgale_swepu
recordidTN_cdi_swepub_primary_oai_prod_swepub_kib_ki_se_124166326
sourceformatXML
sourcesystemPC
galeidA282709778
sourcerecordidA282709778
originalsourceidFETCH-LOGICAL-b635t-f196a88d31dad15f6f868d7a80f9e313bc9ff7c487c2351e75b39b16aad06a6c0
addsrcrecordideNqNkkFv1DAQhSMEoqVw54QiIcQBpdjOxo65lRW0FQUOlMLNmtjjrrdZJ9hZwf57HLJs1QoBsaLE9veeZ6yXZY8pOaS05C-X3vcFI5QWJaGVLO9k-3TG66Isyde72T4hjKWdiuxlD2JckvGp5f1sjzFWEVrP9jM4Rt8Nm97pHLzJ-8VuahGGdcCYdzZ_r4-CaTE3LiJEfJU7H93lYoi5Dd0qHxaYf-rBu7jIPQyu89DmAS9dHMLmYXbPQhvx0fZ7kH1---Z8flKcfTw-nR-dFQ0vq6GwVHKoa1NSA4ZWltua10ZATazEkpaNltYKPauFZmVFUVRNKRvKAQzhwDU5yOTkG79jv25UH9wKwkZ14NJ_Z9R2_cqNr4qoKJtRzkvGk_Z00nY9enABb6iNx0ElAyZlpWQqAizISmPDiUFrCAARjalRp8pJ8no-eaVDv60xDmrlosa2BY_dOirJuCSVkNV_kJTOKK1YIp_eIpfdOqRbjoqKOvUhhKyvqUtoUTlvuyGAHj3VEauZIFKIkTr8A5WGwZXTnUfr0voNAZkEOnQxBrS7y6FEjTFUYwzVGEM1xTBJnmzrXTcrNDvB79wl4NkWgKihtQG8dvGa44RKScbG-a2ztRt-JSwV7dq_VVBMwpRB_LEzhnCluChFpT5czNXrdycXX-bsXB0n_sXEN6vlv_v7CYMLE_M
sourcetypeOpen Access Repository
isCDItrue
recordtypearticle
pqid1781247798
display
typearticle
titleGenotypic and phenotypic features of McArdle disease: insights from the Spanish national registry
creatorLucia, Alejandro ; Ruiz, Jonatan R ; Santalla, Alfredo ; Nogales-Gadea, Gisela ; Rubio, Juan C ; García-Consuegra, Inés ; Cabello, Ana ; Pérez, Margarita ; Teijeira, Susana ; Vieitez, Irene ; Navarro, Carmen ; Arenas, Joaquín ; Martin, Miguel A ; Andreu, Antoni L
creatorcontribLucia, Alejandro ; Ruiz, Jonatan R ; Santalla, Alfredo ; Nogales-Gadea, Gisela ; Rubio, Juan C ; García-Consuegra, Inés ; Cabello, Ana ; Pérez, Margarita ; Teijeira, Susana ; Vieitez, Irene ; Navarro, Carmen ; Arenas, Joaquín ; Martin, Miguel A ; Andreu, Antoni L
descriptionBackgroundPublished genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics.MethodsA cross sectional study was conducted, collecting demographic, family history, clinical, genotype and functional capacity data from all patients diagnosed with McArdle disease in the Spanish National Health System up to December 2010.Results239 cases were recorded (all of Caucasian descent, 102 women; mean±SD age 44±18 years (range 9, 93)); prevalence of ∼1/167 000 people. Two mutant PYGM alleles were identified in 99.6% of cases. Although there was heterogeneity in the severity of symptoms, there were four common diagnostic features: (1) 99.5% of patients reported a history of acute crises of exercise intolerance (accompanied by recurrent myoglobinuria in 50% of cases); (2) in 58% of patients, symptoms started in the first decade of life; (3) 86% of patients repeatedly experienced the ‘second wind’ phenomenon over life; and (4) 99% of patients had a high basal serum level of total creatine kinase (>200 U/l). Clinical presentation of the disease was similar in men and women and worsened with age. Patients who were physically active had higher levels of cardiorespiratory fitness (by 23%, p=0.003) and were more likely to improve their clinical course over a 4 year period compared with inactive patients (OR 225; 95% CI 20.3 to 2496.7).ConclusionsThe main clinical features of McArdle disease are generally homogeneous and frequently appear during childhood; clinical condition deteriorates with ageing. Active patients have a better clinical outcome and functional capacity.
identifier
0ISSN: 0022-3050
1ISSN: 1468-330X
2EISSN: 1468-330X
3DOI: 10.1136/jnnp-2011-301593
4PMID: 22250184
5CODEN: JNNPAU
languageeng
publisherLondon: BMJ Publishing Group Ltd
subjectActivities of Daily Living ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Biological and medical sciences ; Child ; Cross-Sectional Studies ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Demographic aspects ; Disease Progression ; Female ; Genetic aspects ; Genotype ; Genética humana ; Glycogen Phosphorylase, Muscle Form - genetics ; Glycogen Storage Disease Type V - genetics ; Glycogen Storage Disease Type V - pathology ; Glycogenosis ; Humans ; Male ; Medical sciences ; Medicin och hälsovetenskap ; Middle Aged ; Muscle Weakness - pathology ; Myoglobinuria - pathology ; Neurology ; Patient outcomes ; Phenotype ; Registries ; Spain ; Young Adult
ispartofJournal of neurology, neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.322-121
rights
02012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
12015 INIST-CNRS
2Copyright: 2012 (c) 2012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
lds50peer_reviewed
oafree_for_read
citedbyFETCH-LOGICAL-b635t-f196a88d31dad15f6f868d7a80f9e313bc9ff7c487c2351e75b39b16aad06a6c0
links
openurl$$Topenurl_article
thumbnail$$Usyndetics_thumb_exl
backlink
0$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=26019902$$DView record in Pascal Francis
1$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22250184$$D View this record in MEDLINE/PubMed
2$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:124166326$$DView record from Swedish Publication Index
search
creatorcontrib
0Lucia, Alejandro
1Ruiz, Jonatan R
2Santalla, Alfredo
3Nogales-Gadea, Gisela
4Rubio, Juan C
5García-Consuegra, Inés
6Cabello, Ana
7Pérez, Margarita
8Teijeira, Susana
9Vieitez, Irene
10Navarro, Carmen
11Arenas, Joaquín
12Martin, Miguel A
13Andreu, Antoni L
title
0Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry
1Journal of neurology, neurosurgery and psychiatry
addtitleJ Neurol Neurosurg Psychiatry
descriptionBackgroundPublished genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics.MethodsA cross sectional study was conducted, collecting demographic, family history, clinical, genotype and functional capacity data from all patients diagnosed with McArdle disease in the Spanish National Health System up to December 2010.Results239 cases were recorded (all of Caucasian descent, 102 women; mean±SD age 44±18 years (range 9, 93)); prevalence of ∼1/167 000 people. Two mutant PYGM alleles were identified in 99.6% of cases. Although there was heterogeneity in the severity of symptoms, there were four common diagnostic features: (1) 99.5% of patients reported a history of acute crises of exercise intolerance (accompanied by recurrent myoglobinuria in 50% of cases); (2) in 58% of patients, symptoms started in the first decade of life; (3) 86% of patients repeatedly experienced the ‘second wind’ phenomenon over life; and (4) 99% of patients had a high basal serum level of total creatine kinase (>200 U/l). Clinical presentation of the disease was similar in men and women and worsened with age. Patients who were physically active had higher levels of cardiorespiratory fitness (by 23%, p=0.003) and were more likely to improve their clinical course over a 4 year period compared with inactive patients (OR 225; 95% CI 20.3 to 2496.7).ConclusionsThe main clinical features of McArdle disease are generally homogeneous and frequently appear during childhood; clinical condition deteriorates with ageing. Active patients have a better clinical outcome and functional capacity.
subject
0Activities of Daily Living
1Adolescent
2Adult
3Aged
4Aged, 80 and over
5Alleles
6Biological and medical sciences
7Child
8Cross-Sectional Studies
9Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
10Demographic aspects
11Disease Progression
12Female
13Genetic aspects
14Genotype
15Genética humana
16Glycogen Phosphorylase, Muscle Form - genetics
17Glycogen Storage Disease Type V - genetics
18Glycogen Storage Disease Type V - pathology
19Glycogenosis
20Humans
21Male
22Medical sciences
23Medicin och hälsovetenskap
24Middle Aged
25Muscle Weakness - pathology
26Myoglobinuria - pathology
27Neurology
28Patient outcomes
29Phenotype
30Registries
31Spain
32Young Adult
issn
00022-3050
11468-330X
21468-330X
fulltextfalse
rsrctypearticle
creationdate2012
recordtypearticle
recordideNqNkkFv1DAQhSMEoqVw54QiIcQBpdjOxo65lRW0FQUOlMLNmtjjrrdZJ9hZwf57HLJs1QoBsaLE9veeZ6yXZY8pOaS05C-X3vcFI5QWJaGVLO9k-3TG66Isyde72T4hjKWdiuxlD2JckvGp5f1sjzFWEVrP9jM4Rt8Nm97pHLzJ-8VuahGGdcCYdzZ_r4-CaTE3LiJEfJU7H93lYoi5Dd0qHxaYf-rBu7jIPQyu89DmAS9dHMLmYXbPQhvx0fZ7kH1---Z8flKcfTw-nR-dFQ0vq6GwVHKoa1NSA4ZWltua10ZATazEkpaNltYKPauFZmVFUVRNKRvKAQzhwDU5yOTkG79jv25UH9wKwkZ14NJ_Z9R2_cqNr4qoKJtRzkvGk_Z00nY9enABb6iNx0ElAyZlpWQqAizISmPDiUFrCAARjalRp8pJ8no-eaVDv60xDmrlosa2BY_dOirJuCSVkNV_kJTOKK1YIp_eIpfdOqRbjoqKOvUhhKyvqUtoUTlvuyGAHj3VEauZIFKIkTr8A5WGwZXTnUfr0voNAZkEOnQxBrS7y6FEjTFUYwzVGEM1xTBJnmzrXTcrNDvB79wl4NkWgKihtQG8dvGa44RKScbG-a2ztRt-JSwV7dq_VVBMwpRB_LEzhnCluChFpT5czNXrdycXX-bsXB0n_sXEN6vlv_v7CYMLE_M
startdate201203
enddate201203
creator
0Lucia, Alejandro
1Ruiz, Jonatan R
2Santalla, Alfredo
3Nogales-Gadea, Gisela
4Rubio, Juan C
5García-Consuegra, Inés
6Cabello, Ana
7Pérez, Margarita
8Teijeira, Susana
9Vieitez, Irene
10Navarro, Carmen
11Arenas, Joaquín
12Martin, Miguel A
13Andreu, Antoni L
general
0BMJ Publishing Group Ltd
1BMJ Publishing Group
2BMJ Publishing Group LTD
scope
0BSCLL
1IQODW
2CGR
3CUY
4CVF
5ECM
6EIF
7NPM
8AAYXX
9CITATION
10BSHEE
113V.
127RV
137X7
147XB
1588E
1688G
1788I
188AF
198FI
208FJ
218FK
22ABUWG
23AZQEC
24BENPR
25BTHHO
26DWQXO
27FYUFA
28GHDGH
29GNUQQ
30HCIFZ
31K9.
32KB0
33M0S
34M1P
35M2M
36M2P
37NAPCQ
38PQEST
39PQQKQ
40PQUKI
41PRINS
42Q9U
437X8
447TK
45BOBZL
46CLFQK
47ADTPV
48AOWAS
sort
creationdate201203
titleGenotypic and phenotypic features of McArdle disease: insights from the Spanish national registry
authorLucia, Alejandro ; Ruiz, Jonatan R ; Santalla, Alfredo ; Nogales-Gadea, Gisela ; Rubio, Juan C ; García-Consuegra, Inés ; Cabello, Ana ; Pérez, Margarita ; Teijeira, Susana ; Vieitez, Irene ; Navarro, Carmen ; Arenas, Joaquín ; Martin, Miguel A ; Andreu, Antoni L
facets
frbrtype5
frbrgroupidcdi_FETCH-LOGICAL-b635t-f196a88d31dad15f6f868d7a80f9e313bc9ff7c487c2351e75b39b16aad06a6c0
rsrctypearticles
prefilterarticles
languageeng
creationdate2012
topic
0Activities of Daily Living
1Adolescent
2Adult
3Aged
4Aged, 80 and over
5Alleles
6Biological and medical sciences
7Child
8Cross-Sectional Studies
9Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
10Demographic aspects
11Disease Progression
12Female
13Genetic aspects
14Genotype
15Genética humana
16Glycogen Phosphorylase, Muscle Form - genetics
17Glycogen Storage Disease Type V - genetics
18Glycogen Storage Disease Type V - pathology
19Glycogenosis
20Humans
21Male
22Medical sciences
23Medicin och hälsovetenskap
24Middle Aged
25Muscle Weakness - pathology
26Myoglobinuria - pathology
27Neurology
28Patient outcomes
29Phenotype
30Registries
31Spain
32Young Adult
toplevelpeer_reviewed
creatorcontrib
0Lucia, Alejandro
1Ruiz, Jonatan R
2Santalla, Alfredo
3Nogales-Gadea, Gisela
4Rubio, Juan C
5García-Consuegra, Inés
6Cabello, Ana
7Pérez, Margarita
8Teijeira, Susana
9Vieitez, Irene
10Navarro, Carmen
11Arenas, Joaquín
12Martin, Miguel A
13Andreu, Antoni L
collection
0Istex
1Pascal-Francis
2Medline
3MEDLINE
4MEDLINE (Ovid)
5MEDLINE
6MEDLINE
7PubMed
8CrossRef
9Academic OneFile (A&I only)
10ProQuest Central (Corporate)
11Nursing & Allied Health Database
12Health & Medical Collection
13ProQuest Central (purchase pre-March 2016)
14Medical Database (Alumni Edition)
15Psychology Database (Alumni)
16Science Database (Alumni Edition)
17STEM Database
18Hospital Premium Collection
19Hospital Premium Collection (Alumni Edition)
20ProQuest Central (Alumni) (purchase pre-March 2016)
21ProQuest Central (Alumni Edition)
22ProQuest Central Essentials
23ProQuest Central
24BMJ Journals
25ProQuest Central Korea
26Health Research Premium Collection
27Health Research Premium Collection (Alumni)
28ProQuest Central Student
29SciTech Premium Collection
30ProQuest Health & Medical Complete (Alumni)
31Nursing & Allied Health Database (Alumni Edition)
32Health & Medical Collection (Alumni Edition)
33Medical Database
34Psychology Database
35Science Database
36Nursing & Allied Health Premium
37ProQuest One Academic Eastern Edition
38ProQuest One Academic
39ProQuest One Academic UKI Edition
40ProQuest Central China
41ProQuest Central Basic
42MEDLINE - Academic
43Neurosciences Abstracts
44OpenAIRE (Open Access)
45OpenAIRE
46SwePub
47SwePub Articles
jtitleJournal of neurology, neurosurgery and psychiatry
delivery
delcategoryRemote Search Resource
fulltextno_fulltext
addata
au
0Lucia, Alejandro
1Ruiz, Jonatan R
2Santalla, Alfredo
3Nogales-Gadea, Gisela
4Rubio, Juan C
5García-Consuegra, Inés
6Cabello, Ana
7Pérez, Margarita
8Teijeira, Susana
9Vieitez, Irene
10Navarro, Carmen
11Arenas, Joaquín
12Martin, Miguel A
13Andreu, Antoni L
formatjournal
genrearticle
ristypeJOUR
atitleGenotypic and phenotypic features of McArdle disease: insights from the Spanish national registry
jtitleJournal of neurology, neurosurgery and psychiatry
addtitleJ Neurol Neurosurg Psychiatry
date2012-03
risdate2012
volume83
issue3
spage322
epage121
pages322-121
issn
00022-3050
11468-330X
eissn1468-330X
codenJNNPAU
notesAL, JRR, MAM and ALA contributed equally to this paper.
abstractBackgroundPublished genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics.MethodsA cross sectional study was conducted, collecting demographic, family history, clinical, genotype and functional capacity data from all patients diagnosed with McArdle disease in the Spanish National Health System up to December 2010.Results239 cases were recorded (all of Caucasian descent, 102 women; mean±SD age 44±18 years (range 9, 93)); prevalence of ∼1/167 000 people. Two mutant PYGM alleles were identified in 99.6% of cases. Although there was heterogeneity in the severity of symptoms, there were four common diagnostic features: (1) 99.5% of patients reported a history of acute crises of exercise intolerance (accompanied by recurrent myoglobinuria in 50% of cases); (2) in 58% of patients, symptoms started in the first decade of life; (3) 86% of patients repeatedly experienced the ‘second wind’ phenomenon over life; and (4) 99% of patients had a high basal serum level of total creatine kinase (>200 U/l). Clinical presentation of the disease was similar in men and women and worsened with age. Patients who were physically active had higher levels of cardiorespiratory fitness (by 23%, p=0.003) and were more likely to improve their clinical course over a 4 year period compared with inactive patients (OR 225; 95% CI 20.3 to 2496.7).ConclusionsThe main clinical features of McArdle disease are generally homogeneous and frequently appear during childhood; clinical condition deteriorates with ageing. Active patients have a better clinical outcome and functional capacity.
copLondon
pubBMJ Publishing Group Ltd
pmid22250184
doi10.1136/jnnp-2011-301593
oafree_for_read