Provider Practice and Patient Clinical Follow-Up Among Patients With Spinal Muscular Atrophy (SMA) Linked-Variant.
Genetic counseling and follow-up testing remain underutilized for patients with spinal muscular atrophy, pointing to opportunities for better care coordination.
This observational cohort study examined Provider Practice and Patient Clinical Follow-Up Among Patients With Spinal Muscular Atrophy (SMA) Linked-Variant. The PubMed abstract reports that At least one suggested follow-up was completed by 29;1% of patients, with 162 patients (30;2%) receiving genetic counseling and 61 (11;4%) undergoing partner testing.
What the study was
- Study design
- Observational cohort study
- Population
- patients with the SMA linked-variant approximately 2017-2021
- Sample size
- 856
- Category
- Drug Development
- Maturity
- Validated
- Journal
- Prenatal diagnosis
Why it surfaced
Score 5/10 reflects observational cohort study evidence with abstract only access; genuine match to Rare diseases with high unmet need.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.