Neuromuscular

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.

Neurology News Network for the week ending March 20, 2021.

Take 5 minutes to catch up on NeurologyLive's highlights from the week ending March 19, 2021.

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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Students share their experience in the virtual classroom, navigating new requirements, and the lessons learned from their position in a global pandemic.

Sharon Hesterlee, PhD, executive vice president and chief research officer, MDA, shares an early look at the MDA's 2021 Virtual Clincial and Scientific Conference, March 15-18.

Take 5 minutes to catch up on NeurologyLive's highlights from the week ending March 12, 2021.