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February 1988

X-linked Infantile Spinal Muscular Atrophy

Author Affiliations

From the Institute of Molecular Genetics (Drs Greenberg, Fenolio, and Hejtmancik) and the Departments of Pediatrics (Dr Greenberg), Medicine (Drs Fenolio and Hejtmancik), and Pathology (Dr Armstrong), Baylor College of Medicine, Houston; the Departments of Pediatrics and Neurology, Louisiana State University Medical Center (Dr Willis), the Human Genetics Program and the Department of Pediatrics, Tulane School of Medicine (Dr Shapira), New Orleans; the Department of Pathology, Scott & White Memorial Hospital and Clinic, Temple, Tex (Dr Huntington); and the Rehabilitation Center, Evansville, Ind (Dr Haun).

Am J Dis Child. 1988;142(2):217-219. doi:10.1001/archpedi.1988.02150020119045

• Four male infants from three sibships in an extended family were noted to have hypotonia, areflexia, and congenital joint contractures. The findings of electromyography and muscle histology were consistent with infantile spinal muscular atrophy (SMA). Pedigree analysis suggests that this disorder represents an X-linked, recessive form of SMA. Findings in similar kindreds may explain the previously reported increased male-female ratio in infantile SMA.

(AJDC 1988;142:217-219)