Observational Study of Spinal Muscular Atrophy Type 2 and 3 Functional Outcomes Over 1 Year

被引：127

作者：

Kaufmann, Petra ^{[1
]}

McDermott, Michael P. ^{[3
,4
]}

Darras, Basil T. ^{[5
]}

Finkel, Richard ^{[6
]}

Kang, Peter ^{[5
]}

Oskoui, Maryam ^{[1
,8
]}

Constantinescu, Andrei ^{[2
]}

Sproule, Douglas Michael ^{[1
,2
]}

Foley, Reghan ^{[6
]}

Yang, Michele ^{[6
]}

Tawil, Rabi ^{[4
]}

Chung, Wendy ^{[2
]}

Martens, Bill ^{[4
]}

Montes, Jacqueline ^{[1
]}

O'Hagen, Jessica ^{[1
]}

Dunaway, Sally ^{[1
]}

Flickinger, Jean M. ^{[6
]}

Quigley, Janet ^{[5
]}

Riley, Susan ^{[5
]}

Glanzman, Allan M. ^{[7
]}

Benton, Maryjane ^{[6
]}

Ryan, Patricia A. ^{[2
]}

Irvine, Carrie ^{[3
]}

Annis, Christine L. ^{[4
]}

Butler, Hailly ^{[5
]}

Caracciolo, Jayson ^{[5
]}

Montgomery, Megan ^{[1
]}

Marra, Jonathan ^{[1
]}

Koo, Benjamin ^{[1
]}

De Vivo, Darryl C. ^{[1
,2
]}

机构：

[1] Columbia Univ, Dept Neurol, New York, NY 10032 USA

[2] Columbia Univ, Dept Pediat, New York, NY 10032 USA

[3] Univ Rochester, Dept Biostat & Computat Biol, Rochester, NY USA

[4] Univ Rochester, Dept Neurol, Rochester, NY USA

[5] Harvard Univ, Sch Med, Dept Neurol, Childrens Hosp Boston, Boston, MA 02115 USA

[6] Childrens Hosp Philadelphia, Dept Neurol & Pediat, Philadelphia, PA 19104 USA

[7] Childrens Hosp Philadelphia, Dept Phys Therapy, Philadelphia, PA 19104 USA

[8] McGill Univ, Dept Neurol, Montreal, PQ H3A 2T5, Canada

来源：

ARCHIVES OF NEUROLOGY | 2011年 / 68卷 / 06期

基金：

美国国家卫生研究院;

关键词：

FUNCTIONAL MOTOR SCALE; SMN2 COPY NUMBER; NATURAL-HISTORY; GENE-FREQUENCY; SMA; CHILDHOOD; DIFFERENTIATION; CLASSIFICATION; POPULATION; PREDICTION;

D O I：

10.1001/archneurol.2010.373

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: To characterize the short-term course of spinal muscular atrophy (SMA) in a genetically and clinically well-defined cohort of patients with SMA. Design: A comprehensive multicenter, longitudinal, observational study. Setting: The Pediatric Neuromuscular Clinical Research Network for SMA, a consortium of clinical investigators at 3 clinical sites. Participants: Sixty-five participants with SMA types 2 and 3, aged 20 months to 45 years, were prospectively evaluated. Intervention: We collected demographic and medical history information and determined the SMN2 copy number. Main Outcome Measures: Clinical outcomes included measures of motor function (Gross Motor Function Measure and expanded Hammersmith Functional Motor Scale), pulmonary function (forced vital capacity), and muscle strength (myometry). Participants were evaluated every 2 months for the initial 6 months and every 3 months for the subsequent 6 months. We evaluated change over 12 months for all clinical outcomes and examined potential correlates of change over time including age, sex, SMA type, ambulatory status, SMN2 copy number, medication use, and baseline function. Results: There were no significant changes over 12 months in motor function, pulmonary function, and muscle strength measures. There was evidence of motor function gain in ambulatory patients, especially in those children younger than 5 years. Scoliosis surgery during the observation period led to a subsequent decline in motor function. Conclusions: Our results confirm previous clinical reports suggesting that SMA types 2 and 3 represent chronic phenotypes that have relatively stable clinical courses. We did not detect any measurable clinical disease progression in SMA types 2 and 3 over 12 months, suggesting that clinical trials will have to be designed to measure improvement rather than stabilization of disease progression.

引用

页码：779 / 786

页数：8

共 39 条

[11]

Emery A E, 1991, Neuromuscul Disord, V1, P19, DOI 10.1016/0960-8966(91)90039-U

[12] Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development [J].