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GENATLAS PHENOTYPE

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)