De Novo Variants in SPTLC1 Gene Associated With Juvenile ALS
Using exome sequencing, researchers shared results of family-based genetic study on the genetic variants associated with juvenile amyotrophic lateral sclerosis.
Using exome sequencing, researchers shared results of family-based genetic study on the genetic variants associated with juvenile amyotrophic lateral sclerosis.
The International Myasthenia Gravis/COVID-19 Working Group has published a short guidance statement on the management of MG and Lambert-Eaton myasthenic syndrome during this novel pandemic.
The FDA has approved Botox for the treatment of lower limb spasticity in pediatric patients 2 to 17 years of age, excluding spasticity caused by cerebral palsy. The treatment was already approved for pediatric upper limb spasticity earlier this year.
Investigators sought to identify genetic factors that may contribute to the risk for neurodegenerative diseases, such as amyotrophic lateral sclerosis and frontotemporal dementia.
Patients with anti-muscle-specific kinase myasthenia gravis typically have a more severe disease presentation, with early bulbar, neck, and respiratory muscle weakness.