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Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

✍ Scribed by Katja Grohmann; Raymonda Varon; Piroschka Stolz; Markus Schuelke; Catrin Janetzki; Enrico Bertini; Kate Bushby; Francesco Muntoni; Robert Ouvrier; Lionel Van Maldergem; Nathalie M. L. A. Goemans; Hanns Lochmüller; Stephan Eichholz; Coleen Adams; Friedrich Bosch; Padraic Grattan-Smith; Carmen Navarro; Heidemarie Neitzel; Tilman Polster; Haluk Topaloğlu; Christina Steglich; Ulf P. Guenther; Klaus Zerres; Sabine Rudnik-Schöneborn; Christoph Hübner

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
213 KB
Volume
54
Category
Article
ISSN
0364-5134

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✦ Synopsis

Abstract

Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin μ‐binding protein 2 (IGHMBP2) on chromosome 11q13. Our aim was to review the clinical features of 29 infants affected with SMARD1 and report on 26 novel IGHMBP2 mutations. Intrauterine growth retardation, weak cry, and foot deformities were the earliest symptoms of SMARD1. Most patients presented at the age of 1 to 6 months with respiratory distress due to diaphragmatic paralysis and progressive muscle weakness with predominantly distal lower limb muscle involvement. Sensory and autonomic nerves are also affected. Because of the poor prognosis, there is a demand for prenatal diagnosis, and clear diagnostic criteria for infantile SMARD1 are needed. The diagnosis of SMARD1 should be considered in infants with non‐5q spinal muscular atrophy, neuropathy, and muscle weakness and/or respiratory distress of unclear cause. Furthermore, consanguineous parents of a child with sudden infant death syndrome should be examined for IGHMBP2 mutations.

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