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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-02-2009
Symbol SMARD1
Location 11q13.2
Name diaphragmatic spinal muscular atrophy with respiratory distress 1
Other name(s) severe infantile distal muscular atrophy type 6
Corresponding gene IGHMBP2
Other symbol(s) DSMA6, HMN6
Main clinical features
  • onset in the first 2 months, starting with generalised hypotonia, arthrogryposis, failure to thrive, and early breathing difficulties, severe respiratory distress resulting from diaphragmatic paralysis with eventration and predominant involvement of the upper limbs and distal muscles, and in any cases cardiac arrythmia with , at biopsy, neurogenic atrophy muscle more pronounced in distal muscles , and peripheral nerve involvement
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name immunoglobulin mu binding protein 2, mutation or complex genomic rearrangement on one allele
    Remark(s) may be caused by alterations in the translational output of cells, results primary from impaired helicase activity (Guenther 2009)