Spinal muscular atrophy

New thoughts on the pathogenesis and classification schema

B. S. Russman, S. T. Iannacone, C. R. Buncher, F. J. Samaha, M. White, B. Perkins, L. Zimmerman, C. Smith, K. Burhans, L. Barker

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by function at the time of initial evaluation. The muscle strength of 96 patients aged 5 years or older was evaluated at 6-month intervals using a fixed myometry system. The new observations made are: (1) The present classification schema is not valid; for example, 49 patients with onset of weakness before 6 months of age (type I or Werdnig-Hoffmann disease), whose life span is said to be only 2 to 4 years, participated in the study and are 4 months to 31 years of age. (2) Thirty-seven patients were evaluated over an 18-month period. None lost strength during this time but four lost function. Although the period of observation was short, the results suggest that the loss of function in patients with spinal muscular atrophy might be explained by a process other than cell death that allows patient strength to be maintained and simultaneously prevents the motor unit from achieving its normal adult potential.

Original languageEnglish (US)
Pages (from-to)347-353
Number of pages7
JournalJournal of Child Neurology
Volume7
Issue number4
StatePublished - 1992

Fingerprint

Spinal Muscular Atrophy
Spinal Muscular Atrophies of Childhood
Neuromuscular Diseases
Muscle Strength
Age of Onset
Cell Death
Observation
Prospective Studies

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Russman, B. S., Iannacone, S. T., Buncher, C. R., Samaha, F. J., White, M., Perkins, B., ... Barker, L. (1992). Spinal muscular atrophy: New thoughts on the pathogenesis and classification schema. Journal of Child Neurology, 7(4), 347-353.

Spinal muscular atrophy : New thoughts on the pathogenesis and classification schema. / Russman, B. S.; Iannacone, S. T.; Buncher, C. R.; Samaha, F. J.; White, M.; Perkins, B.; Zimmerman, L.; Smith, C.; Burhans, K.; Barker, L.

In: Journal of Child Neurology, Vol. 7, No. 4, 1992, p. 347-353.

Research output: Contribution to journalArticle

Russman, BS, Iannacone, ST, Buncher, CR, Samaha, FJ, White, M, Perkins, B, Zimmerman, L, Smith, C, Burhans, K & Barker, L 1992, 'Spinal muscular atrophy: New thoughts on the pathogenesis and classification schema', Journal of Child Neurology, vol. 7, no. 4, pp. 347-353.
Russman BS, Iannacone ST, Buncher CR, Samaha FJ, White M, Perkins B et al. Spinal muscular atrophy: New thoughts on the pathogenesis and classification schema. Journal of Child Neurology. 1992;7(4):347-353.
Russman, B. S. ; Iannacone, S. T. ; Buncher, C. R. ; Samaha, F. J. ; White, M. ; Perkins, B. ; Zimmerman, L. ; Smith, C. ; Burhans, K. ; Barker, L. / Spinal muscular atrophy : New thoughts on the pathogenesis and classification schema. In: Journal of Child Neurology. 1992 ; Vol. 7, No. 4. pp. 347-353.
@article{c83a5337e0fa44ccb7277b2bb58721e8,
title = "Spinal muscular atrophy: New thoughts on the pathogenesis and classification schema",
abstract = "We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by function at the time of initial evaluation. The muscle strength of 96 patients aged 5 years or older was evaluated at 6-month intervals using a fixed myometry system. The new observations made are: (1) The present classification schema is not valid; for example, 49 patients with onset of weakness before 6 months of age (type I or Werdnig-Hoffmann disease), whose life span is said to be only 2 to 4 years, participated in the study and are 4 months to 31 years of age. (2) Thirty-seven patients were evaluated over an 18-month period. None lost strength during this time but four lost function. Although the period of observation was short, the results suggest that the loss of function in patients with spinal muscular atrophy might be explained by a process other than cell death that allows patient strength to be maintained and simultaneously prevents the motor unit from achieving its normal adult potential.",
author = "Russman, {B. S.} and Iannacone, {S. T.} and Buncher, {C. R.} and Samaha, {F. J.} and M. White and B. Perkins and L. Zimmerman and C. Smith and K. Burhans and L. Barker",
year = "1992",
language = "English (US)",
volume = "7",
pages = "347--353",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "4",

}

TY - JOUR

T1 - Spinal muscular atrophy

T2 - New thoughts on the pathogenesis and classification schema

AU - Russman, B. S.

AU - Iannacone, S. T.

AU - Buncher, C. R.

AU - Samaha, F. J.

AU - White, M.

AU - Perkins, B.

AU - Zimmerman, L.

AU - Smith, C.

AU - Burhans, K.

AU - Barker, L.

PY - 1992

Y1 - 1992

N2 - We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by function at the time of initial evaluation. The muscle strength of 96 patients aged 5 years or older was evaluated at 6-month intervals using a fixed myometry system. The new observations made are: (1) The present classification schema is not valid; for example, 49 patients with onset of weakness before 6 months of age (type I or Werdnig-Hoffmann disease), whose life span is said to be only 2 to 4 years, participated in the study and are 4 months to 31 years of age. (2) Thirty-seven patients were evaluated over an 18-month period. None lost strength during this time but four lost function. Although the period of observation was short, the results suggest that the loss of function in patients with spinal muscular atrophy might be explained by a process other than cell death that allows patient strength to be maintained and simultaneously prevents the motor unit from achieving its normal adult potential.

AB - We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by function at the time of initial evaluation. The muscle strength of 96 patients aged 5 years or older was evaluated at 6-month intervals using a fixed myometry system. The new observations made are: (1) The present classification schema is not valid; for example, 49 patients with onset of weakness before 6 months of age (type I or Werdnig-Hoffmann disease), whose life span is said to be only 2 to 4 years, participated in the study and are 4 months to 31 years of age. (2) Thirty-seven patients were evaluated over an 18-month period. None lost strength during this time but four lost function. Although the period of observation was short, the results suggest that the loss of function in patients with spinal muscular atrophy might be explained by a process other than cell death that allows patient strength to be maintained and simultaneously prevents the motor unit from achieving its normal adult potential.

UR - http://www.scopus.com/inward/record.url?scp=0026486540&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026486540&partnerID=8YFLogxK

M3 - Article

VL - 7

SP - 347

EP - 353

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 4

ER -