spinal muscular atrophy type 1


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spinal muscular atrophy type 1

An autosomal recessive condition (OMIM:253300) characterised by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Disease severity is inversely proportional to the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amounts of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is the severest form of the SMAs, with onset before age 6 months. Infants never achieve the ability to sit.

Molecular pathology
Defects of SMN1, which encodes a survival motor neuron protein, cause spinal muscular atrophy types 1–4.
References in periodicals archive ?
Kacie, of Wallsend in North Tyneside, has rare muscle wasting illness spinal muscular atrophy Type 1 meaning she has been in and out of hospital all her life.
During his short life, staff at the hospice cared for their son Matthew, who was born with spinal muscular atrophy type 1 on June 17 2004 - a condition which affects nerves in the spinal cord.
Current statistics show an 8-month average lifespan for a child born with spinal muscular atrophy Type 1 who is not put on a ventilator, according to Ms.
Comorbid conditions were present in 22 children: cystic fibrosis (1), spinal muscular atrophy type 1 (4), Down syndrome (4), cardiac abnormalities (5), and HIV infection (8).
AveXis announced that initial results from the pivotal study of AveXis' proprietary gene therapy, AVXS-101, for the treatment of spinal muscular atrophy Type 1, and 24-month follow-up data from the Phase 1 trial, will be presented at the 2018 Annual Meeting of the American Academy of Neurology taking place April 21-27 in Los Angeles.
Dallas, TX, May 16, 2014 --(PR.com)-- AveXis, Inc., a clinic-ready synthetic biology platform company, today announced that the Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 has now formally begun enrollment at Nationwide Children's Hospital.

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