Spinal Muscular Atrophy
Day After Day With Spinal Muscular Atrophy
A cross-sectional study examined health-related quality of life of adults with spinal muscular atrophy in the era of disease-modifying therapy.
In Spinal Muscular Atrophy, Assess Mandibular Dysfunction Frequently
Investigators assembled a Dutch cohort of SMA patients to assess reductions in mandibular function over time, finding that SMA type 2 patients suffered more severe limitations than those with SMA type 3a or 3b.
In Spinal Muscular Atrophy, What Factors Influence Pain in Which Patients?
Pain is common among patients with spinal muscular atrophy, but the prevalence among age groups is unknown. This study unveiled a link between several clinical characteristics and pain.
Dysphasia in SMA: Improving Infants’ Ability to Swallow
A small study that included just seven infants has served to shine a light on the complication of dysphagia among children with spinal muscular atrophy and the role of disease-modifying therapies in treatment and management.
Spinal Muscular Atrophy Outcomes Enhanced by Newborn Screening
Using European data, investigators compared outcomes between children with spinal muscular atrophy who were diagnosed through a newborn screening program versus those who were diagnosed after symptom onset.
Spinal Muscular Atrophy: The Caregiver’s Perspective
In managing patients with a serious condition like spinal muscular atrophy, it’s often the caregiver who suffers along with the patient. A new study sought to better quantify this relationship.
In-Home Body-Weight Support System for Young Children Treated for SMA
This single-arm prospective cohort study demonstrated stable or improved outcomes in motor abilities in infants with SMA who used this guided bodyweight support system over a period of six months.
AI-Assisted Diagnosis of SMA Hypotonia
Using AI technology, researchers in France taught a computer how to recognize signs of SMA hypotonia at a younger age than when diagnosis is normally made, opening up the possibility for earlier treatment for this rare disease.