Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients.

Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of treatment for the patients. We looked through published literature to create a set of considerations for treatment in patients with Spinal Muscular Atrophy including age, type, SMN2 copies, and any familial considerations.

An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy.

Objective: The US risdiplam expanded access program (EAP; NCT04256265) was opened to provide individuals with Type 1 or 2 spinal muscular atrophy (SMA) who had no satisfactory treatment options access to risdiplam prior to commercial availability. The program was designed to collect safety data during risdiplam treatment.

Methods: Patients were enrolled from 23 non-preselected sites across 17 states and treated with risdiplam orally once daily.

Frequency, Predictors, and Outcome of Seizures in Patients With Myelomeningocele: Single-Center Retrospective Cohort Study.

To determine the frequency, predictors, and outcomes of seizures in patients with myelomeningocele, we retrospectively analyzed the data from patients with myelomeningocele followed longitudinally at a single center from 1975 to 2013. We identified a total of 122 patients (61% female). The mean follow-up duration was 11.

Combination molecular therapies for type 1 spinal muscular atrophy.

Background: Data on combining molecular therapies that increase survival motor neuron protein for spinal muscular atrophy type 1 (SMA1) is lacking.

Methods: This was a retrospective study describing our centers' experiences in treating SMA1 patients with combination therapy.

Results: Five children received nusinersen and onasemnogene abeparvovec-xioi (onasemnogene).

BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.

Bcl-2-associated athanogene 3 (BAG3) myopathy is a rare myofibrillar myopathy characterized by toe walking and clumsiness in the first decade with rapid progression to cardiomyopathy and restrictive lung disease in the second decade. Most patients (18 patients) have the c.626C >T (p.

Electroclinical Findings of Epileptic Encephalopathy.

Introduction: Early-onset epileptic encephalopathies are among the most severe early-onset epilepsies, leading to progressive neurodegeneration. An increasing number of novel genetic causes continue to be uncovered as the primary etiology.

Results: We report a girl infant of Semitic (Saudi Arabian) descent who presented with multifocal seizures and later developed intractable infantile spasms and myoclonic seizures.

Spinal muscular atrophy care in the COVID-19 pandemic era.

The coronavirus disease 2019 (COVID-19) pandemic has resulted in reorganization of healthcare settings affecting the delivery of clinical care to patients with spinal muscular atrophy (SMA). There is a concern that patients with SMA may be at increased risk of manifesting severe symptoms of COVID-19. Currently approved therapies for SMA improve survival and motor function; however, their delivery requires an increased exposure to the health system and a dedicated healthcare team.

Sneddon Syndrome: A Comprehensive Overview.

Sneddon syndrome (SS) is an episodic or chronic, slowly progressive disorder and characterized by generalized livedo racemosa (patchy, violaceous, skin discoloration) and recurrent cerebrovascular events. The histopathology of skin and brain is remarkable for a noninflammatory thrombotic vasculopathy involving medium- and small-sized dermal and cerebral arteries, respectively. Approximately 80% of the SS patients are women with a median age of diagnosis at 40 years.

EEG asymmetry and BIS/BAS among healthy adolescents.

Asymmetry in frontal alpha activation (FAA) has been associated with specific behavior patterns. Greater activation in the left frontal cortex is related to "approach" motivation, while greater activation in the right cortex is associated with "withdrawal" motivation. Moreover, resting FAA is stable over time among adults.

Prevalence of epileptiform discharges in healthy 11- and 12-year-old children.

We sought to determine the prevalence of interictal epileptiform discharges (IEDs) in healthy 11- and 12-year-old children. Sixth grade students with no history of seizure, or neurologic or psychiatric disease, were enrolled in a longitudinal physical activity intervention study. Per study protocol, each student had two EEG recordings approximately 6months apart.