Hope for ULD
What is ULD?
Unverricht-Lundborg Disease (ULD) is a rare Progressive Myoclonic Epilepsy, also known as EPM1. It is a neurodegenerative condition, which becomes increasingly debilitating over time.
ULD is an autosomal recessive disease caused by mutations in the gene, cystatin B (CSTB). In order to have the disease, a person must have two mutated copies (alleles) of the CSTB gene. A person with one normal copy of CSTB (dominant) and one mutated copy (recessive) is a carrier, but that person does not have the disease.
ULD progresses slowly, but tends to be debilitating as it progresses. Many ULD patients experience years of myoclonic and tonic clonic seizures. Patients have stimulus-sensitive seizures. Myoclonus events can be both positive myoclonus (abrupt muscle contractions) and negative myoclonus (sudden interruption of muscular activity).
As the disease progresses, patients commonly begin to experience ataxia and more negative myoclonus, resulting in many falls and injuries. They often also experience trouble speaking, emotional lability, and depression. Patients can endure much emotional and physical pain. Severe depression and psychiatric problems can be present. Many patients end up in wheelchairs, and often need help with daily living activities, such as eating and bathing. ULD patients have stimulus sensitive myoclonic jerks that are more frequent and severe when they try to move, think, or process any changes in their environment, such as light or movement. The severity can differ from patient to patient.
Hope for ULD in the news
Reporter Laura Freeman recently interviewed our Executive Director, Michele Collins, as well as Dr. Berge Minassian, pediatric neurologist, researcher, professor, and Division Chief of Child Neurology at University of Texas Southwestern Medical Center. You can find the article HERE!
Reporter Brenda Ruggiero recently interviewed our Executive Director, Michele Collins. You can find the article HERE!
Hope for ULD is recognized as supporting ULD research on the NIH rare diseases website. Click HERE to access that page.
We are currently raising money for PHASE I of ULD Gene Therapy Research. Our current goal is $300,000. Read more about this HERE.
HOPE BLOSSOMS: If you live near Akron, OH, you can be part of our HOPE BLOSSOMS team. We will be selling concessions at Blossom Music Center and earning a portion of the sales for Hope for ULD. Please send an email to the address below, for more information.