About DYNC1H1 Associated Neurological Disorders
DYNC1H1 Associated Neurological Disorder (DAND) encompasses a recently identified group of rare neurodegenerative conditions caused by variants in the DYNC1H1 gene. As of 2020, a little over 20 patients had been identified, researchers suspect substantial more individuals have been mis- or undiagnosed. DAND causes a wide range of symptoms with varying severity, including neuropathy, muscle atrophy, seizures, neurodevelopmental delay, intellectual disability, autism, visual impairments, and brain malformations.
DYNC1H1 Associated Neurological Disorder Clinical Features
DYNC1H1 Associated Neurological Disorder (DAND) is a neurodegenerative disorder that causes a wide range of symptoms with varying severity. The majority of DAND patients experience some form of hypotonia and nearly half are affected by seizures. Other common symptoms include varying degrees of neuropathy, muscle atrophy, intellectual disability, developmental delays, visual impairments, ADHD, autism spectrum disorder, foot deformities, spinal deformities, contractures, and brain malformations. These symptoms can affect every aspect of life: walking, talking, learning, eating, and seeing.
Get to Know DYNC1H1 Association
DYNC1H1 Association is a global community dedicated to improving the lives of those affected by DYNC1H1 Associated Neurological Disorders (DAND) and accelerating research to find safe and effective treatments. DYNC1H1 Association was founded in 2023 by parents Lisa Costen, Liz Spitzer and Brettne Frewin. Our hope is to be a resource and place of community for every patient and family affected by DYNC1H1 variants. In addition to providing support and education for families, DYNC1H1 Association also provides researchers and clinicians with platforms to collaborate and engage with one another to accelerate the pace of research and treatments for DAND.
I am Especially Proud of...
We launched the DYNC1H1 Association less than a year ago and we are so proud of how our community is rallying together. We are also so grateful and proud of how engaged the scientific community has been. The response from many researchers has been “we’ve been waiting for you!” meaning the patient community. So many researchers and clinicians have fully supported us and are committed to making rapid progress toward improving lives and finding safe and effective treatments.
Excited to REN Because...
We are honored to be part of this supportive space for patient organizations and look forward to learning from one another as we continue along this rare journey.
My Journey and Motivation...
My fun-loving and amazing son, Wesley, was diagnosed with infantile spasms and DYNC1H1 in September 2021. Like many parents after receiving a rare diagnosis, I felt lost and overwhelmed. I found a DYNC1H1 parent support group on Facebook, which was so accepting and encouraging. A few months later, in that Facebook group, I saw that Lisa Costen and Brettne Frewin were working on starting a foundation. I immediately reached out and asked to help. We were able to officially launch the DYNC1H1 Association in 2023. Each of us has a child affected by DAND. Each of our children has unique presentations but we are equally determined to find better treatments and standards of care for this community.
By: Liz Spitzer, COO & CoFounder, DYNC1H1 Association