Muscle Biopsy and the Clinical Course of Infantile Spinal Muscular Atrophy-Reference-Cited by-同舟云学术

Muscle Biopsy and the Clinical Course of Infantile Spinal Muscular Atrophy

Published:1991-10 Issue:4 Volume:6 Page:324-328
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Zalneraitis Edwin L.¹,Halperin John J.²,Grunnet Margaret L.³,Russman Barry S.⁴,Peress Nancy⁵

Affiliation:

1. Departments of Pediatrics, University of Connecticut Medical School, Farmington, Department of Neurology, University of Connecticut Medical School, Farmington

2. Departments of Neurology, SUNY at Stony Brook Medical School, Stony Brook, NY

3. Department of Neurology, University of Connecticut Medical School, Farmington, Department of Pathology, University of Connecticut Medical School, Farmington

4. Departments of Pediatrics, University of Connecticut Medical School, Farmington, Department of Neurology, University of Connecticut Medical School, Farmington, Newington Children's Hospital Newington, CT

5. Department of Pathology, SUNY at Stony Brook Medical School, Stony Brook, NY

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. (J Child Neurol 1991;6:324-328).

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/088307389100600407

Reference17 articles.

1. THE GENETIC IDENTITY OF ACUTE INFANTILE SPINAL MUSCULAR ATROPHY

2. Infantile Muscular Atrophy

3. Brooke MH: A Clinician's View of Neuromuscular Disease, 2nd ed. Baltimore, Williams & Wilkins, 1986, p 43.

4. Gomez MR: Motor neuron diseases in childhood, in Engel AG, Banker BQ (eds): Myology. New York, McGraw-Hill, 1986, pp 1993-1998.

5. Carpenter S., Karpati G.: Pathology of Skeletal Muscle. New York, Churchill Livingstone, 1984, pp 470-479.

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