Challenges of Life as Teen, Young Adult With SMA Highlighted in Survey
Being an adolescent or young adult with spinal muscular atrophy (SMA) presents unique challenges, according to a study based on viewpoints expressed by patients ages 12 to 25. “‘I have SMA, SMA doesn’t have me’: a qualitative snapshot into the...
CHMP Favors EU Approval of Evrysdi as 1st Oral, At-home SMA Treatment
Evrysdi (risdiplam) has been recommended for approval in the European Union (EU) to treat spinal muscular atrophy (SMA) patients, ages 2 months and older, with a clinical diagnosis of type 1, 2, or 3, or with one to four copies of the SMN2 “backup” gene. “Our close...
Evrysdi Seen to Improve Survival, Motor Development of Infants with SMA Type 1
Genentech’s Evrysdi (risdiplam) improved survival in infants with spinal muscular atrophy (SMA) type 1, and allowed them to achieve developmental milestones not usually seen in the natural course of the disease, according to one-year data from the dose-finding part of...
Mother Raises 4 Adopted Girls From China With SMA, Chronic Illnesses
When Josylnn Jones McLaughlin moved to Guangzhou, China, to teach conversational English in 2012, she didn’t expect to bring home two girls, one with spinal muscular atrophy (SMA) and the other with spina bifida, when she returned to Anderson, S.C., more than a year...
Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion
Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed on the left...
Cure SMA Offers Free Virtual Therapy Sessions
To help with stress or anxiety brought on by the COVID-19 pandemic or other issues, adult patients with spinal muscular atrophy (SMA) in the U.S. are being offered up to three half-hour live video sessions with a licensed therapist. The Adults with SMA Virtual Therapy...
Rare Disease Day at NIH, Set for March 1, Growing Year by Year
Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a...
Brain Involvement in SMA Type 1 Still Poorly Understood, Review Finds
Children with spinal muscular atrophy (SMA) type 1 may have neurodegeneration in several areas of the brain, with impaired cognitive function and profound speech difficulties, according to a review study. However, brain involvement in this severe type of SMA is...
Study Finds Varying Perspectives From Parents on Spinraza Therapy for Children
Parents of children with spinal muscular atrophy (SMA) reported different perspectives and concerns about Spinraza (nusinersen) therapy in an interview-based study, done to further understand the decision-making process involved in choosing whether to try the new...
Using Dry Needling To Relieve Muscle Spasms For SMA Patients
Dry needling has been a popular treatment in the world of physical therapy for the past few years and is continuing to gain popularity with more research being performed. There are many different reasons to use dry needling to improve your patients' function, with the...
New SMN-boosting Molecule Shows Promise as Add-on Therapy
Targeting a specific region of an intermediate molecule generated from the SMN2 gene increased the levels of functional SMN — the protein lacking in spinal muscular atrophy (SMA) — in cells derived from SMA patients, a study shows. In addition, combining this approach...
Eurodis Survey: Healthcare Experience Worse for Rare Disease Patients
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare...
