Spinal Muscular Atrophy

The single-center study explored cerebrospinal fluid neurofilament and protein levels in patients with spinal muscular atrophy (SMA) undergoing treatment with nusinersen in an effort to identify useful biomarkers as treatment options expand.

The MScanFit method assessed changes in motor unit configuration in adult patients undergoing treatment for spinal muscular atrophy (SMA).

A review of current molecular and electrophysiological biomarkers in spinal muscular atrophy (SMA) concluded that more exploration is necessary to find noninvasive, yet accurate, measures of disease progression and therapy response.

A recent study compared intelligence quotient test scores between adult patients with spinal muscular atrophy (SMA) and healthy adults.

A novel indwelling subcutaneous intrathecal catheter circumvented the complex spine anatomy of patients with spinal muscular atrophy (SMA), a challenge when giving nusinersen via intrathecal injection.

A review of advances in spinal muscular atrophy (SMA) identification and treatment highlights areas where there is room for improvement.

Biomarkers for spinal muscular atrophy are needed to further analyze treatment efficacy, and a recent study points to serum neurofilament light chain levels as a possible option.

A review of current research and drug development in motor neuron disorders such as amyotrophic lateral sclerosis and spinal muscular atrophy shows progress in the identification of treatment pathways and therapies.

A review of instruments used to assess upper-limb function in patients with neuromuscular diseases found that more tools are needed to address specific diseases.

A recent review of viral gene therapy in pediatric neurological diseases included positive outcomes in patients with spinal muscular atrophy (SMA).

Recent research identified spinal muscular atrophy (SMA)–specific growth percentiles, aiming to improve clinical management of the nutritional aspects of the disease.

A pair of surveys found that there are knowledge and practice gaps preventing earlier diagnoses of spinal muscular atrophy (SMA) in infants and toddlers.

An epidemiological investigation of spinal muscular atrophy (SMA) in Japan provided clarity on the genetic condition’s prevalence and incidence in the country and highlighted the importance of newborn screening for SMA

Innovative therapies for rare diseases such as spinal muscular atrophy (SMA), when paid for by public budgets in the European Union and elsewhere, are often managed by agreements between payers and drug companies, but details can be hard to discern.

Even though respondents did not know very much about spinal muscular atrophy, the survey showed that most were in favor of newborn screening.

Conducting a review of data published over a 25-year period, researchers highlight the importance of this type of research they say offers insight that drives the success of SMA treatment.

This case study, involving a boy aged 13 years, shows that in a little over 1 year, the treatment yielded significant clinical benefit.

Spinal muscular atrophy treatment Zolgensma was found to be safe and effective for long-term use and use in presymptomatic patients, according to posters presented at the 2021 MDA Virtual Clinical & Scientific Conference.

Results of a survey depicting the ways that spinal muscular atrophy (SMA) affects the lives of adolescents and young adults revealed areas of support that need to be addressed to ensure that patients are able to live their best possible lives.

According to the researchers, the findings are paving the way toward precision medicine and may have broader use in tracking treatment response in adult-onset motor neuropathy in the future.

Reliable data on the costs of spinal muscular atrophy (SMA) illness are scarce, leaving key questions unanswered as new, high-priced therapies continue to emerge.

Vamshi Rao, MD, attending physician of Neurology at Ann and Robert H. Lurie Children’s Hospital of Chicago discusses how new treatments will influence future care guidelines for spinal muscular atrophy (SMA).

Direct inpatient and outpatient costs are significantly higher for patients with untreated spinal muscular atrophy (SMA) compared with matched controls.

Vamshi Rao, MD, attending physician of Neurology at Ann and Robert H. Lurie Children’s Hospital of Chicago, discusses the future of combination therapies in the spinal muscular atrophy (SMA) space.

The results also showed that the infants achieved certain milestones in motor development, pulmonary function, and survival.