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Muscle Biopsy and the Clinical Course of Infantile Spinal Muscular Atrophy

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

John J. Halperin, MD

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

Margaret L. Grunnet, MD

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

Barry S. Russman, MD

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

Nancy Peress, MD

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

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).

Journal of Child Neurology, Vol. 6, No. 4, 324-328 (1991)
DOI: 10.1177/088307389100600407


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