TY - JOUR
T1 - The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1
T2 - A systematic review
AU - Porro, Francesca
AU - Rinchetti, Paola
AU - Magri, Francesca
AU - Riboldi, Giulietta
AU - Nizzardo, Monica
AU - Simone, Chiara
AU - Zanetta, Chiara
AU - Faravelli, Irene
AU - Corti, Stefania
PY - 2014/11/15
Y1 - 2014/11/15
N2 - 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 μ-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 SMARD1, 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.
AB - 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 μ-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 SMARD1, 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.
KW - Clinical presentations
KW - Diagnostic criteria
KW - IGHMBP2 gene
KW - Immunoglobulin μ binding protein
KW - Infantile neuromuscular disorders
KW - SMARD1
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UR - http://www.scopus.com/inward/citedby.url?scp=84910117814&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2014.09.010
DO - 10.1016/j.jns.2014.09.010
M3 - Article
C2 - 25248952
AN - SCOPUS:84910117814
VL - 346
SP - 35
EP - 42
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -