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A group of healthcare professionals involved in the diagnosis and care of people with spinal muscular atrophy (SMA) in Scotland, and in research into the rare genetic condition, is calling for the addition of SMA to the list of diseases included in the country’s free newborn screening (NBS) program.
A frequent complaint and limitation for patients that have been diagnosed with SMA is lack of flexibility throughout their body. Contractures, or shortening of muscles leading to deformity of joints, can occur secondary to lack of ability to perform active range of motion and being in a seated position for…
A research team in the U.S. has developed a new DNA reference, or benchmark, map with detailed sequence information on a number of genes, including SMN1 — the disease-causing gene in spinal muscular atrophy (SMA). Such information was missing from previous benchmark maps due to the genes’ intrinsic features.
The Scottish Medicines Consortium (SMC) has added oral Evrysdi (risdiplam) to the list of medications available through the country’s National Health Service (NHS) at low or no cost to eligible spinal muscular atrophy (SMA) patients, SMA UK announced. These include those 2 months and older diagnosed with SMA type…
Men with spinal and bulbar muscular atrophy (SBMA) were found to have abnormally small nerves in the limbs, especially the arms, as measured by ultrasound, a study showed. These findings support the use of ultrasound as an additional tool to identify SBMA and improve selection for genetic testing, the…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
A 28-year-old Indonesian woman with spinal muscular atrophy (SMA) type 3 who never used any disease-modifying treatment gave birth to her second healthy child with the help of a multidisciplinary team, scientists reported. Her case is the second known of a successful pregnancy in a previously untreated woman…
Roche Canada has completed its negotiations with the pan-Canadian Pharmaceutical Alliance (pCPA) regarding the availability and pricing of Evrysdi (risdiplam), an approved once-a-day oral therapy for spinal muscular atrophy (SMA). The pCPA is a nationwide organization in Canada that collaborates on various public drug plan initiatives to manage…
The U.K. has expanded the referral criteria for the approved gene therapy Zolgensma to include children with spinal muscular atrophy (SMA) who weigh up to 18 kilograms (40 lbs), according to a press release from SMA UK. The expansion to a higher weight category — 15 to…
Screening for spinal muscular atrophy (SMA), the leading genetic cause of infant death, is now available to 87% of all babies born in the United States, according to Cure SMA. The milestone was reached after Arizona and Louisiana began testing newborns for SMA this year, raising the number…
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