Jerry R. Mendell, MD, has been named to the TIME100 Health list for his contributions to the treatment of neuromuscular ...

A range of genetic mutations associated with spinal muscular atrophy (SMA) were linked to abnormal activation of the immune ...

In the 1987 science fiction spoof movie “Spaceballs,” Princess Vespa (Daphne Zuniga) is betrothed to Prince Valium (Jim J. Bullock), who dozes off constantly. He has chronic drowsiness, so much so ...

In a trial, SMA gene therapy EXG001-307 helped a small group of young children with type 1 better control their heads and sit ...

Twenty-six babies were diagnosed with spinal muscular atrophy in Russia in a 2022 pilot program, out of nearly 203,000 infants tested.

Columnist Alyssa Silva considers how her changed attitude toward her voice amplifier has been a way of redefining progress.

SMN-K186R, a modified version of the SMN protein that is deficient in people with spinal muscular atrophy (SMA), was more effective than normal SMN when delivered by gene therapy, a mouse study ...

The LTFU-Cares and Check program helps patients, families, and clinicians work together after newborn screening identifies ...

Columnist Brianna Albers considers stepping back from social media and exploring alternate ways to be a disability advocate.