Clinical features of late-onset Pompe disease: A prospective cohort study

被引：136

作者：

Wokke, John H. J. ^{[1
]}

Escolar, Diana M. ^{[2
]}

Pestronk, Alan ^{[3
]}

Jaffe, Kenneth M. ^{[3
]}

Carter, Gregory T. ^{[3
]}

Van Den Berg, Leonard H. ^{[1
]}

Florence, Julaine M. ^{[3
]}

Mayhew, Jill ^{[4
]}

Skrinar, Alison ^{[5
]}

Corzo, Deyanira ^{[5
]}

Laforet, Pascal ^{[6
]}

机构：

[1] Univ Med Ctr Utrecht, NL-3584 CX Utrecht, Netherlands

[2] Childrens Natl Med Ctr, Washington, DC 20010 USA

[3] Univ Washington, Sch Med, Washington, DC USA

[4] CNMC, CINRG, Washington, DC USA

[5] Genzyme Corp, Cambridge, MA USA

[6] Grp Hosp Pitie Salpetriere, AP HP, Inst Myol, Paris, France

来源：

MUSCLE & NERVE | 2008年 / 38卷 / 04期

关键词：

Pompe disease; glycogen storage disease type II; acid maltase deficiency; outcome measures; prospective cohort study;

D O I：

10.1002/mus.21025

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The objective of this 12-month study was to describe the clinical features of late-onset Pompe disease and identify appropriate outcome measures for use in clinical trials. Assessments included quantitative muscle testing (QMT), functional activities (FAA), 6-min walk test (6MWT), and pulmonary function testing (PFT). Percent predicted values indicated quantifiable upper and lower extremity weakness, impaired walking ability, and respiratory muscle weakness. Significant declines in arm and leg strength and pulmonary function were observed during the study period. The outcome measures were demonstrated to be safe and reliable. Symptom duration was identified as the best predictor of the extent of skeletal and respiratory muscle weakness.

引用

页码：1236 / 1245

页数：10

共 45 条

[1]

Electrophysiologic techniques for the assessment of respiratory muscle function [J].

Aldrich, TK ;

Sinderby, C ;

McKenzie, DK ;

Estenne, M ;

Gandevia, SC .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2002, 166 (04) :548-+

[2]

[Anonymous], 1996, Arch Phys Med Rehabil, V77, P1251

[3]

LUNG-FUNCTION TESTING - SELECTION OF REFERENCE VALUES AND INTERPRETATIVE STRATEGIES [J].

不详 .

AMERICAN REVIEW OF RESPIRATORY DISEASE, 1991, 144 (05) :1202-1218

[4]

A diagnostic protocol for adult-onset glycogen storage disease type II [J].

Ausems, MGEM ;

Lochman, P ;

van Diggelen, OP ;

van Amstel, HKP ;

Reuser, AJJ ;

Wokke, JHJ .

NEUROLOGY, 1999, 52 (04) :851-853

[5]

Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families [J].

Ausems, MGEM ;

ten Berg, K ;

Beemer, FA ;

Wokke, JHJ .

NEUROMUSCULAR DISORDERS, 2000, 10 (07) :467-471

[6]

BLACK LF, 1969, AM REV RESPIR DIS, V99, P696

[7]

DUCHENNE MUSCULAR-DYSTROPHY - PATTERNS OF CLINICAL PROGRESSION AND EFFECTS OF SUPPORTIVE THERAPY [J].

BROOKE, MH ;

FENICHEL, GM ;

GRIGGS, RC ;

MENDELL, JR ;

MOXLEY, R ;

FLORENCE, J ;

KING, WM ;

PANDYA, S ;

ROBISON, J ;

SCHIERBECKER, J ;

SIGNORE, L ;

MILLER, JP ;

GILDER, BF ;

KAISER, KK ;

MANDEL, S ;

ARFKEN, C .

NEUROLOGY, 1989, 39 (04) :475-481

[8]

CLINICAL-TRIAL IN DUCHENNE DYSTROPHY .1. THE DESIGN OF THE PROTOCOL [J].

BROOKE, MH ;

GRIGGS, RC ;

MENDELL, JR ;

FENICHEL, GM ;

SHUMATE, JB ;

PELLEGRINO, RJ .

MUSCLE & NERVE, 1981, 4 (03) :186-197

[9]

Towards a molecular therapy for glycogen storage disease type II (Pompe disease) [J].

Chen, YT ;

Amalfitano, A .

MOLECULAR MEDICINE TODAY, 2000, 6 (06) :245-251

[10]

ATS statement: Guidelines for the six-minute walk test [J].

Crapo, RO ;

Casaburi, R ;

Coates, AL ;

Enright, PL ;

MacIntyre, NR ;

McKay, RT ;

Johnson, D ;

Wanger, JS ;

Zeballos, RJ ;

Bittner, V ;

Mottram, C .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2002, 166 (01) :111-117

← 1 2 3 4 5 →