Primary genetic mitochondrial disorders arise from defects in either the mitochondrial or nuclear genome that impair mitochondrial function and structure. They are among the most common inborn errors ...

Background A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline.

Nocturnal seizures often cause symptoms like spasms, grunting, and breathing difficulties while sleeping. Increasing sleep by 90 minutes can decrease your seizure risk by 27% over 48 hours.

Stiff person syndrome (SPS) causes you to have muscle stiffness and spasms, often triggered by sudden noises or touch. You can use medications like muscle relaxants and anticonvulsants to relieve ...

Departments of Palliative Care, Critical Care and Pharmacy, University Hospital Southampton (UHS) NHS Foundation Trust, NHR Biomedical Research Centre, Perioperative and Critical Care theme, Faculty ...

Background: Primary coenzyme Q10 (CoQ10) deficiency is a rare, treatable mitochondrial disorder often caused by biallelic pathogenic variants in COQ8A gene (also known as ADCK3). It typically ...