A lack of the survival motor neuron 1 (SMN1) protein, the gene mutated in spinal muscular atrophy (SMA), affected liver development in mice — with liver defects evident before muscle symptoms start showing. The study, “Survival Motor Neuron (SMN) protein is required for normal mouse liver development,” published in the…
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Children with spinal muscular atrophy (SMA) may present symptoms indicative of other genetic disorders, such as Farber disease, according to a case study. Researchers also highlighted the importance of analyzing DNA mutations, in addition to clinical observations, in more accurately diagnosing and treating rare diseases. The study, “Polyarticular Arthritis and…
Biogen has completed its rolling submission of a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) for the approval of nusinersen for the treatment for spinal muscular atrophy (SMA). Biogen has also applied for a Priority Review designation which, if granted, means the FDA should…
Researchers have found a promising new drug delivery method for spinal muscular atrophy (SMA), a degenerative disease that affects the motor nerve cells in the spinal cord of children. Although there is a treatment for this disease, the lack of an effective delivery system is an obstacle for its widespread use.
In this FightSMA video shared in June 2011, meet Dr. Nanci Yuan who is a board certified pediatric pulmonologist and also a sleep medicine physician. Yuan shares about how poor sleep quality affects children with spinal muscular atrophy and their caregivers. Learn all about the new exoskeleton designed to specifically give children who…
International pharmaceutical company Roche, with its SMA drug development collaboration partners PTC Therapeutics and the SMA Foundation, said a clinical study called Moonfish (NCT02240355) that was investigating a compound and investigational medicine known as RG7800 for people with spinal muscular atrophy (SMA) was placed on clinical hold in April 2015 after…
Researchers from India reported the cases of two babies who were diagnosed with spinal muscular atrophy with respiratory distress syndrome (SMARD1).
Tetanus toxin may have a therapeutic role in spinal muscular atrophy (SMA) according to preliminary results published in the scientific journal Frontiers in Molecular Neuroscience.
Approximately one in 10,000 newborns are born with spinal muscular atrophy (SMA), a life threatening condition that results in muscle wasting, severely impaired mobility, and sometimes a shortened life span in severe cases. Currently, SMA is incurable but there are ways to manage the condition and bring comfort to patients. Learn how…
Screening for spinal muscular atrophy (SMA) in high-risk groups could greatly reduce the impact of the disease, according to a new article published by researchers in Ottawa. The report, “Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy,” was published in the journal Neuromuscular Disorders.
