In recognition of Rare Disease Day, the NeurologyLive® team offered an extensive update on the state of care and treatment for a wide range of rare neurological diseases, including Kleine-Levin syndrome, amyotrophic lateral sclerosis, cerebral palsy, Lennox-Gastaut syndrome, and more. Established by the European Organisation for Rare Diseases in an effort to raise awareness, the day has been celebrated globally since 2009, when the National Organization for Rare Disorders offered its hand in spreading the day to others, helping to get advocacy groups in the United States—and eventually around the world—to observe the day. The disease primarily affects boys, but in rare cases it can affect girls. In Europe and North America, the prevalence of DMD is approximately 6 per 100,000 individuals.19-21 · Patients with DMD and their clinicians do have a number of therapies available to them, though none yet are curative. Amyotrophic lateral sclerosis (ALS), commonly referred to as Lou Gehrig’s disease, is a progressive neurodegenerative disease affecting nerve cells in the brain and spinal cord, leading to loss of muscle control.24 Experts have yet to identify the underlying cause of ALS, but the condition is inherited in roughly 10% of cases and begins with muscle twitching and weakness, and/or slurred speech. According to the Rare Disease Database, ALS affects 1.5 to 3 per 100,000 people per year in North America and Europe, with an estimated 5000 new diagnoses each year and approximately 30,000 patients currently affected in the US.25 Several clinical trials are ongoing in ALS, including a Compassionate Use Clinical Trial recently initiated by Zhittya Genesis Medicine to evaluate its proprietary FGF-1 biological drug with an intranasal delivery device.26 ZZ Biotech has a phase 2 trial (NCT05039258) underway to evaluate 3K3A-APC, a genetically engineered variant of human active protein C that previously saw success in acute ischemic stroke, and Amylyx Pharmaceuticals has begun patient dosing in the phase 3 PHOENIX study (NCT05021536) evaluating AMX0035, an investigational combination agent for patients with ALS.27,28 ... Pom

Original title: “Rare Disease Day: Updates on Rare Neurological Diseases | NeurologyLive - Clinical Neurology News and Neurology Expert Insights”

genetic testing and genetic findings in korean children with cerebral palsy

Original title: “Genetic testing and genetic findings in Korean children with cerebral palsy.”

testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts

Original title: “Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.”

From gene mutations to novel therapies, scientists are translating discoveries into meaningful progress for often overlooked patients. Illuminated in pink, green, purple, and blue for Rare Disease Day, the Wells Fargo Tower in Roanoke glows as a visible reminder of the 1 in 10 Americans affected by rare diseases and the research advancing across Virginia Tech to improve diagnosis, treatment, and outcomes for patients and their families. Fralin Biomedical Research Institute Professor Sharon Ramey and Associate Professor Stephanie DeLuca have developed and refined therapies to treat genetic neuromotor movement disorders. The team has adapted the therapy developed to help children and young adults with cerebral palsy for patients with rare diseases that affect neuromotor skills, such as some CASK-related disorders. Assistant Professor Ryan Purcell of the Fralin Biomedical Research Institute examines the molecular mechanisms of neuropsychiatric disease risk, which will provide insights for novel strategies to address a number of rare genetic syndromes. Nick Rider, a data scientist and clinical immunologist with Carilion Clinic and professor in the Virginia Tech Carilion School of Medicine, focuses on building computational tools to quantify various aspects of the epidemiology, clinical journey, biology and clinical outcomes for patients with inborn errors of immunity, which are caused by damaging variants in single genes. Matt Weston, associate professor at the Fralin Biomedical Research Institute, examines childhood seizure disorders, including a number of developmental and epileptic encephalopathy disorders affecting small patient populations. Meike van der Heijden, assistant professor at the Fralin Biomedical Research Institute, studies how cerebellar circuits mature during brain development. Her work on the cerebellum helps inform a better understanding of rare diseases such as spinocerebellar ataxia and dystonia.

Original title: “Rare Disease Day: Virginia Tech researchers tackle uncommon conditions | Virginia Tech News | Virginia Tech”

musculoskeletal pathology in children with infantile cerebral palsy a new classification system

Original title: “[Musculoskeletal pathology in children with infantile cerebral palsy: a new classification system].”

Learn about cerebral palsy: symptoms, causes, screening, treatment, and CDC's work.

Original title: “About Cerebral Palsy”

Cerebral palsy is a group of disorders affecting a person’s movement, balance, and posture.

Original title: “Cerebral Palsy (CP)”

Risk factors for congenital cerebral palsy, and how to prevent it before, during, and after birth.

Original title: “Risk Factors for Cerebral Palsy”