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Day After Day With Spinal Muscular Atrophy
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A cross-sectional study examined health-related quality of life of adults with spinal muscular atrophy in the era of disease-modifying therapy.
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In Spinal Muscular Atrophy, Assess Mandibular Dysfunction Frequently
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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.
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In Spinal Muscular Atrophy, What Factors Influence Pain in Which Patients?
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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.
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Dysphasia in SMA: Improving Infants’ Ability to Swallow
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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.
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Spinal Muscular Atrophy Outcomes Enhanced by Newborn Screening
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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.
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Spinal Muscular Atrophy: The Caregiver’s Perspective
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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.
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In-Home Body-Weight Support System for Young Children Treated for SMA
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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.
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AI-Assisted Diagnosis of SMA Hypotonia
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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.