Spinal muscular atrophy (SMA) is a leading cause of infant mortality. Most cases of the disease are caused by mutations in a gene called SMN1 that reduce the production of functional SMN protein, ...

Otto LAM, Froeling M, van Eijk RPA, et al. Quantification of disease progression in spinal muscular atrophy with muscle MRI—a pilot study. NMR Biomed. 2021;34 (4):e4473. doi:10.1002/nbm.4473.

The inheritance pattern is autosomal recessive, and carrier frequency ranges from 1 in 45 to 1 in 100 people. 2 Asian ethnicity is associated with the highest carrier frequency (2.4%). 1 ...

Caused by a mutation of the SMN gene, spinal muscular atrophy is an infantile and juvenile neurodegenerative disorder where motor neuron loss causes progressive paralysis. A new study published in ...

Muscle weakness could be a sign of spinal muscular atrophy, which can strike all ages but is the No. 1 genetic cause of death in infants. Here's what it is and what you can do about it.

Spinal muscular atrophy (SMA) is a genetic condition that weakens muscles throughout the body. This makes it difficult to move, swallow, and in some cases breathe. SMA is caused by a gene mutation ...

Novartis has reported positive topline outcomes from the Phase III STEER trial of an investigational gene therapy, intrathecal onasemnogene abeparvovec (OAV101 IT) in treating individuals with ...

Spinal bulbar muscular atrophy (SBMA) is a progressive genetic neuromuscular condition that affects motor neurons. Over time, it may cause symptoms such as difficulty speaking, swallowing, or walking.

Ravindra Singh, professor of biomedical sciences, led a research team that created a shortened version of the gene that cause spinal muscular atrophy. The super minigene will make it easier to find ...

Spinal muscular atrophy is a debilitating genetic condition that’s usually fatal by a few years of age. But an intriguing case study might demonstrate a simple new treatment, with a child ...