Molecular analysis of spinal muscular atrophy
and modification of the phenotype by SMN2.
When SMN1 fails to create functioning proteins, Spinal Muscular Atrophy
is the result.
As FightSMA grew so did the collaborative experiences of the brave mothers who faced the daily battle of caring for a child with spinal muscular atrophy
CUTLINE: Mary and Sean White pose with their sons, Colin, left, and Brendan, who has spinal muscular atrophy
Their work has suggested that treatment with certain classes of drugs can be used to treat neurodegenerative diseases, including spinal muscular atrophy
The adorable five year-old was born with the genetic condition Spinal Muscular Atrophy
has patented a quantitative method for the molecular diagnosis of autosomal recessive spinal muscular atrophy
(SMA) by measuring the amount of cytosolic mRNA from human muscle cells.
A year after Catherine Curry-Williams' son Shane died of spinal muscular atrophy
, a rare neuromuscular disease, she established a playground in his memory.
He will join other racers at the Prestige Karting Centre in Colne to raise vital funds for the boys, who both suffer from the muscle-wasting disease spinal muscular atrophy
Chloe Stone (above), from Walsall, who is confined to a wheelchair and suffers from Spinal Muscular Atrophy
, will appear in 8,000 emails sent to businesses urging them to raise money for Children's Hospice Week.
Tomorrow,Conor, who suffers from spinal muscular atrophy
will see top specialist Dr John Bach, who has made remarkable progress in fighting the disease.
Spinal muscular atrophy
(SMA) is an inherited disease that causes progressive muscle deterioration and weakness.