Background: Spinal muscular atrophy (SMA) is a severe, progressive neuromuscular disease caused by reduced levels of the survival of motor neuron (SMN) protein due to […]
Background: The long-term safety profile of nusinersen 12 mg and pharmacokinetic/pharmacodynamic (PK/PD) modelling provide the basis for the DEVOTE study. Objectives: To explore whether administering […]
Background: Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD) are progressive neuromuscular disorders resulting in impaired ambulatory function. Disease modifying treatments demonstrate improved function […]
Background: Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptotagmin-2 (SYT2), is […]
Background: Historically, children with SMA 1 have had severe quadriplegia and respiratory insufficiency with a life expectancy of 1-2 years. Nusinersen has helped children with […]
Purpose: The purpose of this quality improvement project was to evaluate the effect of adrenal crisis education for the caregivers of patients with Duchenne Muscular […]
Zolgensma (onasemnogene abeparovec-xioi) is a systemic AAV9 gene therapy for the treatment of SMA type 1, with significant benefits in preservation and motor neuron function […]
Background: Pediatric patients with neuromuscular disorders often receive care for their chronic disease through a multidisciplinary team of healthcare providers. Lacking in this multidisciplinary approach, […]
OBJECTIVE: We aimed to identify factors parents consider important in the treatment decision-making process for children diagnosed with spinal muscular atrophy (SMA) on newborn screening. […]