Prospective study of spinal muscular atrophy before age 6 years

Susan T. Iannaccone, Richard H. Browne, Frederick J. Samaha, C. Ralph Buncher

Research output: Contribution to journalArticle

55 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)187-193
Number of pages7
JournalPediatric Neurology
Volume9
Issue number3
DOIs
StatePublished - 1993

Fingerprint

Spinal Muscular Atrophy
Prospective Studies
Fasciculation
Stretch Reflex
Mortality
Muscle Strength
Motor Neurons
Respiratory Insufficiency
Multicenter Studies
Counseling
Parents
Muscles

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Prospective study of spinal muscular atrophy before age 6 years. / Iannaccone, Susan T.; Browne, Richard H.; Samaha, Frederick J.; Ralph Buncher, C.

In: Pediatric Neurology, Vol. 9, No. 3, 1993, p. 187-193.

Research output: Contribution to journalArticle

Iannaccone, Susan T. ; Browne, Richard H. ; Samaha, Frederick J. ; Ralph Buncher, C. / Prospective study of spinal muscular atrophy before age 6 years. In: Pediatric Neurology. 1993 ; Vol. 9, No. 3. pp. 187-193.
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