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 language | English (US) |
|---|---|
| Pages (from-to) | 324-328 |
| Number of pages | 5 |
| Journal | Journal of Child Neurology |
| Volume | 6 |
| Issue number | 4 |
| DOIs | |
| State | Published - Jan 1 1991 |
| Externally published | Yes |
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All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology
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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 journal › Article
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 -