Spinal Muscular Atrophy

Muscle Ultrasound Could Be Important Tool in Flagging Late-Onset SMA

July 21st 2022, 11:20am

Article

The technique outperformed physical examinations in identifying muscle fasciculations, which are common in spinal muscular atrophy (SMA).

Therapy Targeting Neuromuscular Junction Leads to SMA Improvement

July 18th 2022, 9:00pm

Article

New data suggest motor function improves with amifampridine.

Physical Therapy Boosts Efficacy of Nusinersen in SMA, Study Shows

July 14th 2022, 12:57pm

Article

Patients who received regular physical therapy had improvement that was 4 times better than nusinersen alone, findings from this new study show.

Early Identification of SMA May Help Curb Costs of Disease

July 11th 2022, 6:24pm

Article

When excluding the price tag of treatment, costs were significantly lower among the patients identified by early screening than among the patients identified by symptoms

Initiation of Nusinersen for SMA Soon After Birth May Allow for Normal Outcomes

July 2nd 2022, 9:01pm

Article

Publishing their findings on the earliest treated infants to date, the researchers detailed the outcomes of 2 patients treated with nusinersen in their first week of life after receiving a spinal muscular atrophy (SMA) prenatal diagnosis.

Comprehensive Analysis of SMA May Improve Detection, Lower Residual Risk Ratio

June 29th 2022, 10:41am

Article

The researchers of this new study wrote that although SMA carrier screening is recommended for all couples, current testing methods primarily focus on copy number loss of SMN1, which can result in false-negative test results due to intragenic mutations and silent carriers falling under the radar.

Reduced Vertebral Body Height, Depth May Influence Surgical Intervention of SMA, Says Study

June 23rd 2022, 6:18pm

Article

The study included children and adolescents, and it found decreased vertebral height and depth among both groups of patients compared with healthy controls.

Patients With Calf Muscle Weakness Should Have SMA Gene Analysis, Study Says

June 17th 2022, 4:45pm

Article

Based on their findings, the researchers urged for the inclusion of a VRK1 gene analysis in the diagnostic workup of patients who present with predominant calf muscle weakness.

Patient Survey Findings Show Positive Attitudes Toward SMA Trial Experiences

June 10th 2022, 4:01pm

Article

The results, say the study researchers, offer new insights into patient experiences during spinal muscular atrophy (SMA) clinical trials

Assessing Cost and QOL in Patients With SMA Before Symptoms Appear

June 8th 2022, 7:01am

Article

Identifying patients with spinal muscular atrophy (SMA) early and before the onset of symptoms can yield financial savings and improve quality of life (QOL) for these individuals and their families.