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Table of Contents
Vol. 45, No. 3, 2001
Issue release date: April 2001
Section title: Original Paper
Eur Neurol 2001;45:174–181
(DOI:10.1159/000052118)

The Predictive Value of Achieved Motor Milestones Assessed in 441 Patients with Infantile Spinal Muscular Atrophy Types II and III

Rudnik-Schöneborn S.a · Hausmanowa-Petrusewicz I.b · Borkowska J.b · Zerres K.a
aInstitute for Human Genetics, Technical University of Aachen, Germany; bNeuromuscular Unit, Medical Research Center, Polish Academy of Sciences, Warsaw, Poland

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: April 11, 2001
Issue release date: April 2001

Number of Print Pages: 8
Number of Figures: 6
Number of Tables: 2

ISSN: 0014-3022 (Print)
eISSN: 1421-9913 (Online)

For additional information: http://www.karger.com/ENE

Abstract

Proximal spinal muscular atrophy (SMA) is classified into three main subtypes (I–III), defined by age at onset and achieved motor milestones. As age at onset can be very early in SMA II and III (IIIa, onset <3 years) and does not necessarily correlate with prognosis, the question arises whether the child can be correctly assigned to a specific SMA type at the time of presentation based on the assessment of motor function. Therefore we studied the motor milestones in 175 SMA type II and 266 SMA type III patients. In SMA II, 73% of the patients sat within the normal age range (up to 9 months), the remainder learned to do so at ages between 10 and 30 months. In SMA III, the walking milestone was passed with delay (given an upper normal limit of 18 months) in 10% of all and 16% of SMA IIIa patients (median age 13 months, range 9–53 months). There was a correlation between late sitting and walking in SMA III, since those who sat after 9 months were responsible for the majority of delayed walkers. The median age when becoming chairbound did not differ between early-onset SMA III patients who walked with delay and those who walked within the normal age range (10.2 versus 10.5 years). In conclusion, a significant proportion of patients with early-onset SMA classified as SMA II on the basis of achieved motor function turned out to be SMA III at later follow-up. It is important to reassess a child in the first 2–4 years, to determine whether walking can be achieved with or without aids, as children who start to walk late have a similar favourable outcome for ambulation compared to earlier walkers.

© 2001 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: April 11, 2001
Issue release date: April 2001

Number of Print Pages: 8
Number of Figures: 6
Number of Tables: 2

ISSN: 0014-3022 (Print)
eISSN: 1421-9913 (Online)

For additional information: http://www.karger.com/ENE


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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