Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy.

Designing an RNA-interacting molecule that displays high therapeutic efficacy while retaining specificity within a broad concentration range remains a challenging task. Risdiplam is an FDA-approved small molecule for the treatment of spinal muscular atrophy (SMA), the leading genetic cause of infant mortality. Branaplam is another small molecule which has undergone clinical trials.

Parkinson's Disease: Risk Factor Modification and Prevention.

The global burden of Parkinson's disease (PD) has increased from 2.5 to 6.1 million since the 1990s.

GuitarPD: A Randomized Pilot Study on the Impact of Nontraditional Guitar Instruction on Functional Movement and Well-Being in Parkinson's Disease.

Playing musical instruments may have positive effects on motor, emotional, and cognitive deficits in patients with Parkinson's disease (PD). This pilot study examined the feasibility of a six-week nontraditional guitar instruction program for individuals with PD. Twenty-six participants with idiopathic PD (Age: 67.

Movement Disorders Emergencies.

Many acute and potentially life-threatening medical conditions have hyperkinetic or hypokinetic movement disorders as their hallmark. Here we review the clinical phenomenology, and diagnostic principles of neuroleptic malignant syndrome, malignant catatonia, serotonin syndrome, Parkinsonism hyperpyrexia, acute parkinsonism, acute chorea-ballism, drug-induced dystonia, and status dystonicus. In the absence of definitive lab tests and imaging, only a high index of clinical suspicion, awareness of at-risk populations, and variations in clinical presentation can help with diagnosis.