Journal
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 346, Issue 1-2, Pages 35-42Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2014.09.010
Keywords
SMARD1; Infantile neuromuscular disorders; IGHMBP2 gene; Immunoglobulin mu binding protein; Clinical presentations; Diagnostic criteria
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Funding
- Ministry of Health [GGP10062, GR-2009-1483560, GR-2010-2309463, FIRB RBFR08RV86]
- Fondazione Telethon Funding Source: Custom
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Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal-muscular atrophy 1 (DSMA10), is an autosomal recessive type of spinal muscular atrophy that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin mu-binding protein. SMARD1 patients usually present low birth weight, diaphragmatic palsy and distal muscular atrophy. Clinical features are still the most important factor that leads to the diagnosis of SIVIARDI, due to the fact that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity. In the present review, we will systematically discuss the genetic, clinical and neuropathological features of SMARD1 in order to provide a complete overview of SMARD1 variable clinical presentations and of the most important diagnostic tools which can be used to identify and properly manage affected individuals. This background is crucial also in the perspective of the development of novel therapeutic strategies for this still orphan disorder. (C) 2014 Elsevier B.V. All rights reserved.
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