Randomized, double-blind, placebo controlled trial of phenylbutyrate in spinal muscular atrophy
. Neurology 2007; 68:51-5.
Spinal muscular atrophy
(SMA) is a genetic, motor neuron disease characterized by wasting of the skeletal muscles caused by progressive degeneration of the anterior horn cells of the spinal cord.
Spinal muscular atrophy
is a symmetrical process with a predilection for the proximal musculature.
The absence of true ankylosis permits surgery for arytenoid mobilization and VC medialization, but with protracted paralysis, muscular atrophy
and fibrosis may be limiting factors to medialization.
In addition, there is a form of the disease known as X-linked spinal-bulbar muscular atrophy
(SBMA), also known as Kennedy's disease, that arises from a defect in a gene called the androgen receptor gene on the X chromosome.
CAMBRIDGE, Mass., April 12, 2019 (GLOBE NEWSWIRE)--Biogen (Nasdaq: BIIB) today announced it will present new data illustrating the rapidly progressive nature of spinal muscular atrophy
(SMA) in adults, adolescents and older children at the Muscular Dystrophy Association (MDA) Clinical and Scientific Conference in Orlando, Florida (April 13-17, 2019).
(NASDAQ: IONS) to identify new antisense oligonucleotide drug candidates for the treatment of spinal muscular atrophy
(SMA), the company said.
Spinal Muscular Atrophy
(SMA) is characterizsd by loss of motor neurons in the spinal cord and lower brain stem, resulting in severe and progressive muscular atrophy
Juvenile Asymmetric Segmental spino-muscular Atrophy (JASSMA) of Distal Upper Extremity also called: Juvenile muscular atrophy
of distal upper extremity (Hirayama disease) is a cervical myelopathy.
Dallas, TX, February 27, 2015 --(PR.com)-- AveXis, Inc., a biotechnology company focused on using gene therapy to transform the lives of patients with severe genetic and orphan diseases like Spinal Muscular Atrophy
(SMA), today announced the formation of its EU-based wholly-owned subsidiary, AveXis EU, Ltd.
New research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy
offers an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers.
The treatment resulted in longer survival in mice affected by a muscle variant of spinal muscular atrophy
. This is the first time that regeneration of diseased muscle tissue has been obtained using cells derived from amniotic fluid.