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Disease-modifying therapies (DMTs) used for spinal muscular atrophy (SMA) may contribute to the development of therapies for age-related progressive loss of muscle mass and strength, or sarcopenia, new research suggests. The survival muscle neuron (SMN) protein, whose deficiency causes SMA, was found at progressively lower levels with aging…

With all due gravity, I informed the group chat about my latest hypothesis. “I think I might be lactose intolerant.” “NO,” said one friend. “NOOOOO,” said another. I explained that I’d been experiencing some strange symptoms around dinnertime. Initially, I assumed it had something to do with Evrysdi…

Disease subtype, low body fat content, and shallow breathing and low blood oxygen levels during sleep are risk factors for recurrent lung infections and lung failure among children with spinal muscular atrophy (SMA), a study concluded. The risk of these lung complications was about five times higher in…

PerkinElmer‘s EONIS system has been approved in the U.S. to be used by certified laboratories to simultaneously test newborns for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID). The approval by the U.S. Food and Drug Administration (FDA) makes EONIS the first authorized test to…

After high school graduation, I studied abroad through the American Institute for Foreign Study. Based in Oxford, England, our group attended classes at Balliol College and enjoyed side trips to London, Paris, Rome, and Florence, Italy. From shrimp scampi at the Mitre Inn, to rolling hills, rosy…

Most people with spinal muscular atrophy (SMA) are unaware of their SMN2 copy number, and in a few cases, their type of SMA, according to a survey of Cure SMA members. Caregivers also may not know the number, the survey reported. Because an SMN2 copy number can…

It was about a week and a half into the “Dad has COVID-19” saga. Mom and I were surviving in every sense of the term. We’re all introverts, and we all hate change. So you can imagine how very unhappy we all were. We were safe and our…

A combination of in vitro fertilization and preimplantation genetic testing helped a couple in Indonesia — both carriers of mutations causing spinal muscular atrophy (SMA) — become parents of a healthy newborn, a case study reported. Their first daughter was diagnosed with SMA at 7 months, and she died of disease-related…

It takes a lot to manage daily life with SMA. From the mundane to the extraordinary, everything I do — although it takes much more than just myself — requires a practiced juggling act consisting of medications, specialists, assistive technology, medical equipment, appointments, adequate rest, and helping hands.

Researchers have developed and validated four new cell lines derived from four patients with spinal muscular atrophy (SMA) with lower extremity predominance (SMA-LED) that can be used as a tool in studies of this rare form of spinal muscular atrophy. With the characteristics of the patient it…