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Get to Know Hope for ULD



About Unverricht-Lundborg Disease (ULD)

Unverricht-Lundborg Disease (ULD) is a rare genetic Progressive Myoclonic Epilepsy, also known as EPM1. Like other Progressive Myoclonic Epilepsies, ULD is neurodegenerative; it becomes increasingly debilitating as it progresses.


ULD is an autosomal recessive disease caused by variants in the CYSTATIN B (CSTB) gene, which is located on chromosome 21, the cytogenetic location being human chromosome 21q22.3. In order to have the disease, a person must have two pathogenic variants (alleles) of the CSTB gene. A person with one normal copy of CSTB (dominant) and one pathogenic variant (recessive) is a carrier, but that person does not have the disease.


ULD is rare, but its highest incidence occurs in Finland, where the prevalence is 1.9 cases per 100,000 people. In Finland, 99% of all cases have biallelic abnormal dodecamer repeat expansions (homozygosity). This homozygosity accounts for 90% of ULD cases worldwide. That means that both CSTB copies have a pattern (CCC-CGC-CCC-GCG) that repeats too many times. In a normal copy of the CSTB gene, the pattern should repeat two to three times. In ULD patients, the pattern repeats 30 or more times. In 10 percent of ULD patients, there is compound heterozygosity. They have one dodecamer repeat expansion, and one CSTB sequence variant. Variants of the CSTB gene were first identified in March of 1996.


Unverricht-Lundborg Disease (ULD) Clinical Features

The onset of ULD is from age 6 to 16 years. ULD progresses slowly, most often appearing, at first, as barely perceptible myoclonic jerks. As the disease progresses, the myoclonic jerks intensify and may cluster. Less than half of ULD patients experience tonic clonic seizures at the onset of ULD symptoms. Eventually, many patients experience both myoclonic and tonic clonic seizures. The stimulus sensitive myoclonic jerks become more frequent and severe when patients try to move, think, or process any changes in their environment. These seizures are often triggered by stress, noise, and changes in light. The simple acts of reading and performing math problems may cause myoclonic seizures. Myoclonus events can be both positive myoclonus (abrupt muscle contractions) and negative myoclonus (sudden interruption of muscular activity). Myoclonic jerk seizures, as well as non-seizure myoclonus, will occur.


Over time, patients commonly begin to experience ataxia, as well as action myoclonus, resulting in many falls and injuries. They often experience dysarthria (trouble speaking). They may experience dysphagia (trouble swallowing). Emotional lability is a prominent feature of the disease. Other psychiatric comorbidities, such as depression, anxiety, confusion, agitation, and psychosis, may occur. Over time, an intention tremor may develop. Patients may need to depend on wheelchairs and may need help with daily living activities, such as eating and bathing. The severity differs among patients, even within the same family. ULD is often not well-controlled with anti-seizure medications. The tonic clonic seizures can be more easily controlled, but the myoclonic jerk seizures and the action myoclonus (which increases over time) are much more difficult to control with medications.



Get to Know Hope for ULD

Hope for ULD was founded in February 2018. Its mission is to improve the lives of those affected by Unverricht-Lundborg Disease by funding research, treatment, and education. To that end, we are uniting patients, families, doctors, and researchers in an effort to fight this devastating disease. Since ULD is a genetic disease, recent advances in gene therapy suggest that this technology could be a promising treatment for the disease. The primary goal of Hope for ULD is to raise money to fund gene therapy research and treatment. We are currently helping to fund the work of neurologist and researcher Dr. Berge Minassian, Chief of Pediatric Neurology at the University of Texas Southwestern Medical Center and head of the Neurosciences Center at Children's Health in Dallas.


Educating people about ULD is also crucial. As a rare disease, ULD is frequently misdiagnosed. Some anti-seizure medications are known to accelerate the progression of ULD. Therefore, early genetic diagnosis of the disease is critical. Furthermore, the combination of debilitating seizures, neurodegenerative physical challenges, serious injuries, and psychiatric comorbidities create great challenges for patients and their families. Due to the rarity of ULD, patients and families suffering with this disease often feel isolated. The secondary goal of Hope for ULD is to promote education and awareness of the necessity of early diagnosis through genetic testing. Just as importantly, all who work with patients must be made aware of the wide range of physical, cognitive, emotional, behavioral, and psychiatric issues that can be caused by this disease.


I am Especially Proud of...

Hope for ULD has worked hard to fulfill all aspects of our mission in a variety of ways. We are especially thrilled to have contributed funding toward ongoing ULD gene therapy research, because this has the potential to dramatically change the outcome of this devastating disease.



Excited to REN because...

Dealing with a rare epilepsy can be a frightening, isolating, and overwhelming experience. Knowledge and resources may be scarce. Relatively few people have ever heard of the disease; even fewer live with the daily effects of it. By sharing resources and ideas with other rare epilepsy advocates, much work can be accomplished. It is so beneficial to learn from the knowledge and experience of other rare epilepsy advocates. As each small community of advocates shares from its knowledge and experience, the pool of resources for all of us continues to grow. Just as importantly, as we join our voices together, our collective voice in advocating for the needs of those with rare epilepsy becomes much more powerful.


My Journey and Motivation...

As a young boy, my son was a kind, compassionate, enthusiastic child. He had a great sense of humor, a quick wit, and a heart of gold. He loved school, and his passion was participating in sports. Then the seizures appeared, and they began to take from him, more every year. The boy who loved to learn could barely function in school. Constant seizure activity in his brain, coupled with strong doses of anti-seizure medications, made learning nearly impossible. The act of reading and doing math caused seizures. Thinking caused seizures. School became a nightmare for the once enthusiastic student. Bedtime was a greater nightmare. He experienced intense myoclonic jerks as he tried to fall asleep. As he would start to sleep, the jerks would wake him up. Eventually, in total exhaustion, he would fall asleep amid the jerks.


In his teenage years, ULD stopped my son from playing sports and working. The former athlete struggled to walk, no longer able to control his legs. The depression that had plagued him for years became severe. He struggled to control his mind, as wild emotional mood swings and mental confusion occurred more and more frequently, in tandem with the ever present seizure activity. As ULD progressed, countless brutal falls and injuries occurred. We watched helplessly as epilepsy continued to rob him of more every year, simultaneously causing more physical, mental, and emotional pain.


By the time our son was diagnosed, he was in a wheel chair. ULD was interfering with the simplest daily tasks. On some days, constant little seizures kept him from even being able to put food in his mouth. ULD is brutal, and I am motivated to do everything I can to stop the suffering caused by UnverrichtLundborg Disease.


By Michele Collins, Founder and Executive Director of Hope for ULD

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