spinal muscular atrophy type 2

spinal muscular atrophy type 2

An autosomal recessive condition (OMIM:253500) 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 amount of full-length transcripts that encode for a protein identical to SMN1. SMA2 is a more banal form than SMA1, with onset between age 6 and 18 months; patients do not reach the developmental milestone of standing, but survive into adulthood.

Molecular pathology
Defects of SMN1, which encodes a survival motor neuron protein, cause spinal muscular atrophy types 1–4.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Mentioned in ?
References in periodicals archive ?
Jordan Perez, 11, was diagnosed with spinal muscular atrophy type 2 at just 10 months old.
It's a disgrace, they should hang their heads in shame; Mum of boy with muscle disease slams HSE funding row
Observational study of spinal muscular atrophy type 2 and 3: Functional outcomes over 1 year.
Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy
The analyst's takeover valuation is $185 per share without extra credit to the pipeline and $250 per share when including a 25% probability to Rhett and 25% extra probability to spinal muscular atrophy type 2. AveXis closed yesterday up $3.13 to $108.96.
AveXis worth up to $250 per share in buyout scenario, says Citi
After months of tests, she was diagnosed with Spinal Muscular Atrophy Type 2. Mother Anneli Smitham says she diagnosed her daughter herself online after noticing tremors in her hands.
Hettie's special homecoming from her twin
Newcastle had been the only location in the country set to take part in the "Cherish clinical trial" for patients with later-onset of Spinal Muscular Atrophy type 2. The condition is a genetic disease that causes muscle weakness and progressive loss of movement and is caused by deterioration in the nerve cells connecting the brain and spinal cord to the body's muscles.
Disappointment as drug trial axed in North East
Newcastle had been the only location in the country set to take part in the 'Cherish clinical trial' for patients with later-onset of Spinal Muscular Atrophy type 2. The condition is a genetic disease that causes muscle weakness and progressive loss of movement and is caused by deterioration in the nerve cells connecting the brain and spinal cord to the body's muscles.
Families denied hope as trial's off
In September of 2011, in response to the devastating news that their youngest child (born in June of 2010) had been diagnosed with Spinal Muscular Atrophy Type 2, the Castens decided to design a bracelet collection that would benefit research efforts for treatments and a cure for this terminal disease.
Mama Bracelets Making a Difference for Families of SMA
type 1 (Werdnig-Hoffmann disease) Spinal muscular atrophy type 2 Spinal muscular atrophy
Facts about spinal muscular atrophy

Medical browser ?
Full browser ?