Ad
related to: spinal muscular atrophy sma symptoms treatment protocolknowledgedesk.net has been visited by 100K+ users in the past month
Search results
Results from the WOW.Com Content Network
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [ 3 ] [ 4 ] [ 5 ] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [ 6 ]
Autosomal recessive proximal spinal muscular atrophy, responsible for 90-95% of cases and usually called simply spinal muscular atrophy (SMA) – a disorder associated with a genetic mutation on the SMN1 gene on chromosome 5q (locus 5q13), diagnosed predominantly in young children and in its most severe form being the most common genetic cause ...
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles.
Nusinersen, [7] marketed as Spinraza, [4] is a medication used in treating spinal muscular atrophy (SMA), a rare neuromuscular disorder. [8] [4] In December 2016, it became the first approved drug used in treating this disorder.
Onasemnogene abeparvovec, sold under the brand name Zolgensma, is a gene therapy used to treat spinal muscular atrophy (SMA), [6] [7] a disease causing muscle function loss in children. It involves a one-time infusion of the medication into a vein. [6]
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
The trial protocol called for Kaspar’s therapy to be tested on infants up to 9 months old. ... getting AveXis the exclusive right to develop an SMA treatment using the hospital’s inventions ...
Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII (dHMN8), is a hereditary medical condition characterized by muscle wasting (), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle.
Ad
related to: spinal muscular atrophy sma symptoms treatment protocolknowledgedesk.net has been visited by 100K+ users in the past month