Muscle biopsy and the clinical course of infantile spinal muscular atrophy

E. L. Zalneraitis, John Halperin, M. L. Grunnet, B. S. Russman, N. Peress

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition.

Original languageEnglish (US)
Pages (from-to)324-328
Number of pages5
JournalJournal of Child Neurology
Volume6
Issue number4
DOIs
StatePublished - Jan 1 1991
Externally publishedYes

Fingerprint

Spinal Muscular Atrophies of Childhood
Biopsy
Muscles
Motor Neuron Disease
Basement Membrane
Atrophy
Histology

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Zalneraitis, E. L. ; Halperin, John ; Grunnet, M. L. ; Russman, B. S. ; Peress, N. / Muscle biopsy and the clinical course of infantile spinal muscular atrophy. In: Journal of Child Neurology. 1991 ; Vol. 6, No. 4. pp. 324-328.
@article{20335b0686634fe2b8bae5992b35fc22,
title = "Muscle biopsy and the clinical course of infantile spinal muscular atrophy",
abstract = "Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition.",
author = "Zalneraitis, {E. L.} and John Halperin and Grunnet, {M. L.} and Russman, {B. S.} and N. Peress",
year = "1991",
month = "1",
day = "1",
doi = "10.1177/088307389100600407",
language = "English (US)",
volume = "6",
pages = "324--328",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "4",

}

Muscle biopsy and the clinical course of infantile spinal muscular atrophy. / Zalneraitis, E. L.; Halperin, John; Grunnet, M. L.; Russman, B. S.; Peress, N.

In: Journal of Child Neurology, Vol. 6, No. 4, 01.01.1991, p. 324-328.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Muscle biopsy and the clinical course of infantile spinal muscular atrophy

AU - Zalneraitis, E. L.

AU - Halperin, John

AU - Grunnet, M. L.

AU - Russman, B. S.

AU - Peress, N.

PY - 1991/1/1

Y1 - 1991/1/1

N2 - Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition.

AB - Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition.

UR - http://www.scopus.com/inward/record.url?scp=0025949707&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025949707&partnerID=8YFLogxK

U2 - 10.1177/088307389100600407

DO - 10.1177/088307389100600407

M3 - Article

VL - 6

SP - 324

EP - 328

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 4

ER -