TY - JOUR
T1 - Prospective study of spinal muscular atrophy before age 6 years
AU - Iannaccone, Susan T.
AU - Browne, Richard H.
AU - Samaha, Frederick J.
AU - Ralph Buncher, C.
N1 - Funding Information:
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.
PY - 1993
Y1 - 1993
N2 - 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.
AB - 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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U2 - 10.1016/0887-8994(93)90082-N
DO - 10.1016/0887-8994(93)90082-N
M3 - Article
C2 - 8352849
AN - SCOPUS:0027196680
SN - 0887-8994
VL - 9
SP - 187
EP - 193
JO - Pediatric Neurology
JF - Pediatric Neurology
IS - 3
ER -