Elsevier

Pediatric Neurology

Volume 9, Issue 3, May–June 1993, Pages 187-193
Pediatric Neurology

Original article
Prospective study of spinal muscular atrophy before age 6 years

https://doi.org/10.1016/0887-8994(93)90082-NGet rights and content

Abstract

Spinal muscular atrophy (SMA) is a common neuromuscular disorder of childhood, associated with a high mortality rate during the first 2 years of life. Most practitioners expect patients with SMA to follow a progressive course with loss of muscle strength and function over 2–10 years. Counselling sessions with parents frequently emphasize the high mortality rate and risk for respiratory failure. The progressive nature of SMA has been attributed to the loss of motor neurons. Fifty-eight children, ages 6 years and younger, were examined between January, 1987, and April, 1992, as part of a large, multicenter collaborative study of SMA. Muscle function was evaluated at regular intervals using a standardized protocol that was demonstrated to be reliable. We determined a prevalence of 56% for tongue fasciculations, a prevalence of 22% for facial weakness, and persistent deep tendon reflexes in one patient. Improved motor function and acquired milestones during the study were documented. This work should contribute toward a better understanding of the natural history of SMA.

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    This work was funded by the Muscular Dystrophy Association of America, Inc, and was presented in part at the 1991 meeting of the Child Neurology Society in Portland, Oregon.

    1

    The DCN/SMA Study Group includes: Barry S. Russman, MD, University of Connecticut and Newington Children's Hospital, Newington, CT; Laurie Zimmerman, MA, OTR, and Betsy Perkins, RPT, Newington Children's Hospital, Newington, CT; Frederick J. Samaha, MD and Jeanne Bender-Dragoo, RN, University of Cincinnati Medical Center, Cincinnati, OH; C. Ralph Buncher, ScD, and Michael White, MS, University of Cincinnati Medical Center, Cincinnati, OH; Lisa Barker, LPT, and Karen Burhans, MOT, OTRL, Children's Hospital Medical Center, Cincinnati, OH; Susan T. Iannaccone, MD, University of Texas Southwestern Medical Center, Dallas, TX; Cindy Smith, BS, Richard H. Browne, PhD, and David Ross, MA, Texas Scottish Rite Hospital for Children, Dallas, TX.

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