CAMBRIDGE, Mass.--(BUSINESS WIRE [2])--The U.S. Food and Drug Administrat ion (FDA) approved Biogen’s [3] (NASDAQ: BIIB) SPINRAZATM (nusinersen) under Priority Review for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients. SPINRAZA is the first and only treatment approved in the U.S. for SMA, a leading genetic cause of death in infants and toddlers that is marked by ...

Spinal muscular atrophy (SMA) is a genetic disease characterized by atrophy of muscle and loss of spinal motor neurons. SMA is caused by deletion or mutation of the survival motor neuron 1 (SMN1) gene, and the nearly identical SMN2 gene fails to generate adequate levels of functional SMN protein due to a splicing defect. Currently, several therapeutics targeted to increase SMN protein are in cl...

Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide, is an early-onset, autosomal recessive neurodegenerative disease characterized by the loss of spinal α-motor neurons. This loss of α-motor neurons is associated with muscle weakness and atrophy. SMA can be classified into five clinical grades based on age of onset and severity of the disease. Regardless o...

CAMBRIDGE, Mass.--(BUSINESS WIRE [2])--The U.S. Food and Drug Administrat ion (FDA) approved Biogen’s [3] (NASDAQ: BIIB) SPINRAZATM (nusinersen) under Priority Review for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients. SPINRAZA is the first and only treatment approved in the U.S. for SMA, a leading genetic cause of death in infants and toddlers that is marked by ...

CAMBRIDGE, Mass.--(BUSINESS WIRE [2])--The U.S. Food and Drug Administrat ion (FDA) approved Biogen’s [3] (NASDAQ: BIIB) SPINRAZATM (nusinersen) under Priority Review for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients. SPINRAZA is the first and only treatment approved in the U.S. for SMA, a leading genetic cause of death in infants and toddlers that is marked by ...

Spinal muscular atrophy (SMA) is a rare lower motor neurone disease in which anesthetic management is often difficult as a result of muscle weakness, hypersensitivity to non-depolarizing neuromuscular blocking agent, and succinylcholine induced hyperkalemia. We describe a 50-year-old patient with type IV SMA for synovectomy. We decided to use an epidural technique to avoid muscle relaxants and ...

Spinal muscular atrophies (SMA) are clinically heterogenous group of motor system disorders characterised by progressive pure lower motor neuron involvement. The distal form of SMA is an extremely rare disorder, which presents in the adults and has a relatively slow progression with almost no effect on the patients' life-span. Differential diagnosis of this syndrome include other forms of neuro...

In this issue of Ceil, we take the unusual step of publishing two articles each of which reports the identification of a different gene in the appropriate chromosomal region associated with the human disease of spinal muscular atrophy (SMA). Each paper individually meets the standard for publication in providing adequate evidence to identify systematic changes in the gene in patients with the d...

The SMN1 and NAIP genes are related to the development of spinal muscular atrophy (SMA), which is characterized by degeneration of motor neurons leading to progressive muscular weakness and atrophy. The SMN1 gene is homozygously deleted in most SMA patients, and now recognized as a responsible gene for SMA. The NAIP gene is often deleted in the SMA patients with the severest form of SMA, and no...

Spinal muscular atrophy (SMA) results from α-motor neuron loss in the spinal cord due to low levels of the survival of motor neuron (SMN) protein, required for proper spliceosome assembly. The reduced levels of SMN cause muscle atrophy and ultimately death in the most severe cases. Although mouse models of SMA recapitulate many features of the human disease, it is still unclear whether their ph...