Prospective analysis of strength in spinal muscular atrophy

Susan T. Iannaccone, Barry S. Russman, Richard H. Browne, C. Ralph Buncher, Michael White, Frederick J. Samaha

Research output: Contribution to journalArticle

58 Citations (Scopus)

Abstract

Spinal muscular atrophy is a genetic disorder of the motor neurons that causes profound hypotonia, severe weakness, and often fatal restrictive lung disease. Patients with spinal muscular atrophy present a spectrum of disease from the most severe infantile-onset type, called Werdnig-Hoffmann disease (type 1), associated with a mortality rate of up to 90%, to a late-onset mild form (type 3), wherein patients remain independently ambulatory throughout adult life. Although many clinicians agree that patients with spinal muscular atrophy lose motor abilities with age, it is unknown whether progressive weakness occurs in all patients with spinal muscular atrophy. We present here results of the first prospective study of muscle strength in patients with spinal muscular atrophy. There was no loss in muscle strength as determined by a quantitative muscle test during the observation period. However, motor function diminished dramatically in some patients with spinal muscular atrophy. Explanations for this loss of function could not be determined from our data. Decrease in motor function could be caused by factors other than loss of strength. Therefore, it is not clear from our results whether spinal muscular atrophy is a neurodegenerative disease. We conclude that treatment trials in spinal muscular atrophy should be designed with consideration of the natural history of strength and motor function in this disorder.

Original languageEnglish (US)
Pages (from-to)97-101
Number of pages5
JournalJournal of Child Neurology
Volume15
Issue number2
StatePublished - Feb 2000

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Spinal Muscular Atrophy
Muscle Strength
Spinal Muscular Atrophies of Childhood
Inborn Genetic Diseases
Muscle Hypotonia
Motor Neurons
Natural History
Neurodegenerative Diseases
Lung Diseases
Observation
Prospective Studies
Muscles
Mortality

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Iannaccone, S. T., Russman, B. S., Browne, R. H., Buncher, C. R., White, M., & Samaha, F. J. (2000). Prospective analysis of strength in spinal muscular atrophy. Journal of Child Neurology, 15(2), 97-101.

Prospective analysis of strength in spinal muscular atrophy. / Iannaccone, Susan T.; Russman, Barry S.; Browne, Richard H.; Buncher, C. Ralph; White, Michael; Samaha, Frederick J.

In: Journal of Child Neurology, Vol. 15, No. 2, 02.2000, p. 97-101.

Research output: Contribution to journalArticle

Iannaccone, ST, Russman, BS, Browne, RH, Buncher, CR, White, M & Samaha, FJ 2000, 'Prospective analysis of strength in spinal muscular atrophy', Journal of Child Neurology, vol. 15, no. 2, pp. 97-101.
Iannaccone ST, Russman BS, Browne RH, Buncher CR, White M, Samaha FJ. Prospective analysis of strength in spinal muscular atrophy. Journal of Child Neurology. 2000 Feb;15(2):97-101.
Iannaccone, Susan T. ; Russman, Barry S. ; Browne, Richard H. ; Buncher, C. Ralph ; White, Michael ; Samaha, Frederick J. / Prospective analysis of strength in spinal muscular atrophy. In: Journal of Child Neurology. 2000 ; Vol. 15, No. 2. pp. 97-101.
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