Spinal Muscular Atrophy

Risdiplam Not Associated With Retinol Toxicity in SMA, Study Says

December 3rd 2020, 3:59pm

Article

Treatment with risdiplam may not elicit ophthalmologic toxicity in older patients, as well as infants with immature retinas.

Case Report Shows Neuropathological, Molecular Findings of SMA Type 3 With Superficial Siderosis

November 28th 2020, 3:00pm

Article

Researchers have published their postmortem report on a case of spinal muscular atrophy type 3 complicated by superficial siderosis, offering details on their neuropathological and molecular findings.

Researchers Offer Indications of and Prophylactic Measures for Hepatotoxicity in SMA

November 26th 2020, 5:45pm

Article

The compiled results revealed that hepatotoxicity related to the gene therapy typically presented as cholestatic, which could be prophylactically treated with prednisolone.

Imaging Study Shows Upper Leg Involvement in SMA

November 21st 2020, 1:30pm

Article

Using DIXON, T2 mapping, and diffusion tensor imaging, the researchers obtained quantitative MRI for 31 patients with spinal muscular atrophy (SMA) types 2 and 3.

Nusinersen Improves Respiratory Muscle Strength in Patients With SMA Type 2

November 18th 2020, 10:17pm

Article

Following 6 injections of nusinersen, respiratory muscle performance was significantly better among the treated patients compared with age‐matched historical controls.

Using Nusinersen in Type 0 SMA Led to Mild Benefits, Case Study Shows

November 14th 2020, 11:00am

Article

At the time of treatment, there was just 1 paper documenting the use of nusinersen in a case of more mild type 0 spinal muscular atrophy(SMA).

Researchers Identify Novel Mutations in SMA

November 12th 2020, 5:00pm

Article

Researchers have identified additional mutations in both SMN1 and other genes, some of which may be associated with the onset of spinal muscular atrophy (SMA).

Study Highlights Differences in Adaptive Skill Impairments Across NMDs

November 7th 2020, 1:00pm

Article

The study emphasizes the importance of school support and other psychosocial interventions considering specific deficits across adaptive skills in patients with neuromuscular diseases (NMDs).

Researchers Explore Respiratory Impact of Novel Therapies in SMA

November 6th 2020, 3:30pm

Article

The researchers of the review discuss the reported impact of novel therapies for spinal muscular atrophy (SMA) and highlight the need for long-term data and monitoring of respiratory outcomes.

Dr Jill Jarecki Discusses Whether Gender Affects SMA Severity

October 31st 2020, 11:00am

Video

Jill Jarecki, PhD, chief scientific officer at Cure SMA explained the current data and potential for gender to impact the severity spinal muscular atrophy (SMA).