Prospective study of spinal muscular atrophy before age 6 years. DCN/SMA Group

Prospective study of spinal muscular atrophy before age 6 years. DCN/SMA Group

Iannaccone S T; Browne R H; Samaha F J; Buncher C R

Pediatric Neurology

1993

Male; Child; Humans; Prospective Studies; Female; Child Preschool; Infant; Neurologic Examination; Motor Skills/physiology; Muscle Contraction/physiology; Range of Motion Articular/physiology; Reflex Stretch/physiology; Spinal Muscular Atrophies of Childhood/diagnosis/physiopathology; Sucking Behavior/physiology; tone and motor problems; SMA1; trajectory; characteristics; tongue fasciculation; facial weakness

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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