Neuromuscular

There was very good to excellent level of agreement between the instrumented insoles and the gold-standard reference system.

Two-year data from the SUNFISH study were presented at the MDA 2021 Clinical and Scientific Conference.

Researchers conducted a real-world study of prednisone to deflazacort switch in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.

Assessment of forced vital capacity with treatment of enzyme replacement therapy generally showed some initial stability followed by slow progressive decline.

Closing thoughts on advice to community neurologists treating spinal muscular atrophy (SMA).

Experts remind families of the importance of follow-up visits with the multidisciplinary team during COVID-19.

Resources are discussed, including the Child Neurology Foundation’s telehealth tip sheet, to help families navigate telehealth.

Several spinal muscular atrophy (SMA) resources are suggested to help physicians and families, including Cure SMA and standard of care guidelines.

Discussing the diagnosis of spinal muscular atrophy (SMA) with the family and lining up appointments with the multidisciplinary team to help care for the patient.

Diana Castro, M.D., stresses the value of the initial in-person neurology visit for evaluation of spinal muscular atrophy (SMA) to ensure a correct diagnosis. The next step in the process would be genetic testing.

The signs and symptoms leading a pediatrician to a diagnosis of spinal muscular atrophy (SMA) are discussed.

The findings were consistent with the established safety profile for eculizumab in other non-neurologic indications, according to study authors.

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Over a 2-year period, SRP-9003 elicited sustained protein expression in muscle tissue and stabilized North Star Assessment for Dysferlinopathies scores.

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A greater proportion of patients identified by newborn screening achieved a greater than 4-point increase in CHOP-INTEND scores during the observation period compared to those clinically diagnosed.

Researchers found that physical activity as measured by wearable devices was significantly associated with in-person measures of strength and function in patients with CMT.

Diana Castro, M.D., discusses newborn screening for spinal muscular atrophy (SMA) and suggests how to care for patients after the results are received.

Early recognition and referral of a patient with suspected spinal muscular atrophy (SMA) to a neurologist.

Most treatment-emergent adverse events were mild in severity across both studies, with no evidence of renal toxicity, cardiac signals, or deaths.

Researchers conducted a pooled safety analysis of the FIREFISH, SUNFISH, and JEWELFISH studies.

Scholar Rock noted that the topline results from the 52-week treatment period are expected to be announced in the second quarter of 2021.

LT-001 and LT-002 followed up patients treated with onasemnogene abeparvovec from the START, STRONG, STR1VE, and STR1VE-EU studies.

The executive vice president and chief research officer of the MDA offered her perspective on the ongoing conversations about and impact of the pandemic on the care of patients with muscular dystrophies.

At each timepoint, all assessed participants with 3 SMN2 copies and the majority with 2 SMN2 copies were identified by PASA as not being tube fed.

Treatment with nusinersen demonstrated no clinically meaningful changes in vital signs or clinical laboratory parameters, including urine parameters, in those with spinal muscular atrophy.

Researchers also found that, in comparing ataluren to standard care, ataluren delayed loss in pulmonary function.

The high-dose cohort in part 1 of the FIREFISH study also showed that more than 50% of infants could sit without support and more than 90% could feed orally.

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