Zbigniew K. Wszolek, MD
Mayo Clinic
Jacksonville, Florida · United States
Mayo Clinic neurologist, GeneReviews coauthor, and co-discoverer of the DCTN1 variants associated with Perry syndrome.
Contact or profileInformation and support for families worldwide
Clear answers about Perry syndrome.
Support for what comes next.
Start with what matters to you: understanding the disease, preparing for diagnosis, planning care, reading the research, hearing family stories, or finding experienced clinicians.
Medical sources included · Family-first explanations · Worldwide connections
A clear place to begin
Perry syndrome brings several urgent changes into one clinical picture.
Perry syndrome, also called Perry disease, is a rare DCTN1-related neurodegenerative condition. It usually begins in adulthood and can affect movement, breathing, mood, behavior, and weight.
Learn what Perry syndrome is →49 yearsaverage age of onset in published groups
about 5 yearsaverage reported course in published groups
50%chance for each child to inherit a family variant
These figures cannot predict one person’s course.
GeneReviews
Find what you need
Choose your next step.
Each topic now has its own focused page, so families can find, save, and share the right information without searching through one long page.
01
Understand Perry syndrome
Learn about symptoms, DCTN1, inheritance, progression, and the questions families ask most often.
→02Prepare for diagnosis
See how clinical features, breathing assessment, family history, and genetic testing fit together.
→03Plan care and monitoring
Review breathing, movement, mood, nutrition, swallowing, and multidisciplinary care priorities.
→04Explore the research
Read plain-language summaries of the studies shaping what clinicians know about Perry syndrome.
→05Hear family voices
Watch a family story, find interviews, and read carefully labeled published family experiences.
→06Find experienced care
Start with clinicians and centers that have published Perry syndrome experience.
→
Watch the 4-minute storyFeatured family story
A family’s path to a Perry syndrome diagnosis
A family and their clinicians describe years of searching for answers, the diagnosis that brought the symptoms together, and their hope that research can help other families.
Read and watch the full story →Featured research
A Colombian family with 11 reportedly affected members
A 2014 report documented one genetically confirmed patient in detail and recorded 10 additional maternal relatives through family history. The distinction matters: it was one confirmed case, not an 11-patient cohort.
Find knowledgeable care
Start with published Perry syndrome experience.
The directory is an educational starting point, not an endorsement or a guarantee that someone is accepting patients.
Jarosław Dulski, MD, PhD
Medical University of Gdańsk
Gdańsk · Poland
Neurologist and GeneReviews coauthor with extensive clinical and research publications on Perry syndrome.
Contact or profileAbout the foundation
A family’s experience, turned toward hope.
Maria Romo, her sister, and her nieces created the foundation so other families can find reliable information, connection, and support sooner.
The foundation is in its early stages. Formal charitable status has not yet been confirmed.
Read our family story →Connect with us