Parkinsonism
Slowness, stiffness, tremor, balance changes, or a shuffling gait. Symptoms may resemble Parkinson’s disease.
A trusted home for a rare diagnosis
Answers for today.
Hope for what’s next.
Clear, evidence-based information and a connected community for people and families living with Perry syndrome.
Evidence-linked information · Worldwide resources · Family-centered language
Understanding the disease
Rare does not have to mean invisible.
Perry syndrome—also called Perry disease—is part of the spectrum of DCTN1-related neurodegeneration. It usually begins in adulthood and progresses over time.
Changes in the DCTN1 gene affect dynactin, a protein complex involved in transport inside nerve cells. The condition is usually inherited in an autosomal dominant pattern, meaning each child of an affected person has a 50% chance of inheriting the family variant. New (de novo) variants can also occur.
49 yearsaverage age of onset
about 5 yearsaverage reported course
50%inheritance risk for each child
Figures describe published groups and cannot predict one person’s course.
GeneReviews ↗
DCTN1
Four signs clinicians look for
Breathing changes
Slower or shallow breathing—often first noticed during sleep. Symptoms may be subtle and need active monitoring.
Depression or apathy
Depression, loss of motivation, social withdrawal, anxiety, or other behavior and mood changes.
Weight loss
Unexpected and sometimes rapid weight loss, which can occur even when appetite remains good.
Diagnosis
From suspicion to a confirmed answer
No single symptom proves Perry syndrome. Diagnosis brings the clinical pattern, family history, respiratory assessment, and genetic testing together.
- 1
Recognize the pattern
A neurologist—ideally a movement-disorders specialist—reviews movement symptoms alongside mood, weight, breathing, and family history.
- 2
Assess breathing and related symptoms
A clinician may arrange overnight oximetry or a sleep study, blood-gas testing, lung-function testing, brain imaging, and other tests to exclude more common conditions.
- 3
Meet with genetics
Genetic counseling helps a family understand what testing can and cannot tell them, inheritance, consent, and implications for relatives.
- 4
Confirm with molecular testing
A heterozygous pathogenic variant in DCTN1 can establish DCTN1-related neurodegeneration. Results should be interpreted by qualified genetics and neurology professionals.
2018 international consensus
Features in the international diagnostic criteria
AParkinsonismBApathy or depressionCRespiratory symptomsDUnexpected weight lossEFamily historyFDCTN1 test result
All four major symptoms do not need to be present early. Published criteria describe definite, probable, and possible disease and should be applied by clinicians.
Open article ↗Practical checklist
Preparing for an appointment
- Write a symptom timeline
- Bring family health history
- List medicines and supplements
- Note sleep or breathing changes
- Bring prior scans and test results
- Ask whether genetic counseling is appropriate
Care and monitoring
Care is multidisciplinary and personal
There is currently no cure or proven disease-modifying treatment. Care focuses on symptoms, safety, function, comfort, and the priorities of the person and family.
Movement
A movement-disorders neurologist may consider dopaminergic therapy and physical, occupational, and speech therapy. Responses vary.
Breathing
Pulmonology and sleep specialists can monitor for nocturnal hypoventilation and discuss non-invasive or other ventilatory support when appropriate.
Mood and thinking
Depression and suicidal thinking require active screening and treatment. Psychiatry, psychology, counseling, and caregiver support may all help.
Nutrition and swallowing
Dietitians and speech-language pathologists can support calorie needs, swallowing safety, communication, and decisions about assisted nutrition.
Important: Medication and ventilation decisions must be individualized. GeneReviews advises avoiding respiratory depressants such as alcohol, narcotics, and benzodiazepines unless a treating clinician has specifically assessed their use.
Research library
Landmark and current publications
A curated starting point for families, clinicians, and researchers. Links open the publisher or PubMed record.
Movement Disorders Clinical Practice
Perry Disease: Expanding the Genetic Basis
Expanded the known genetic region through a new pathogenic DCTN1 variant and clinicopathologic evidence.Open article↗
Parkinsonism & Related Disorders
L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome
Showed that some people can have a marked, sustained response to L-Dopa and characteristic dystonia.Open article↗
European Journal of Neurology
Clinical, pathological and genetic characteristics of Perry disease
A worldwide review with practical observations on symptoms, pathology, genetics, and management.Open article↗
Journal of Movement Disorders
Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria
Explains the modern disease concept and the international clinical diagnostic framework.Open article↗
Journal of Neurology, Neurosurgery & Psychiatry
Establishing diagnostic criteria for Perry syndrome
Established consensus criteria using 87 published patients from 20 families.Open article↗
Nature Genetics
DCTN1 mutations in Perry syndrome
The landmark discovery linking disease-segregating DCTN1 variants to Perry syndrome.Open article↗
Watch and listen
Learn from experts and clinical cases
These educational resources contain medical discussion and, in the clinical videos, real symptoms. Viewer discretion is advised.
Expert interview · 25 min
International Parkinson and Movement Disorder Society
Perry Disease: an expert conversation
A 25-minute expert conversation with Dr. Zbigniew Wszolek on clinical signs, genetics, pathology, and care.Listen on MDS ↗Clinical video · 2 cases
Movement Disorders Clinical Practice / PubMed Central
Different presentations within one family
Two consented clinical videos showing different movement and breathing presentations within one family.View clinical videos ↗Clinical video · Research
Movement Disorders Clinical Practice / PubMed Central
Expanding the genetic basis of Perry disease
A consented clinical video accompanying a 2023 paper that expanded the known genetic basis of Perry disease.View article and video ↗Published family experiences
The lives behind the literature
Because patient stories deserve consent and care, we do not invent testimonials. These anonymized summaries come from peer-reviewed case reports; first-person stories can be added only with a family’s permission.
After acute respiratory failure and diagnosis, respiratory intervention helped a woman remain highly independent at the published follow-up.
ColombiaRespiratory support and independence
↗A man initially benefited from BiPAP and continued part-time work and recreational cycling until late in his illness.
New ZealandWork, activity, and breathing support
↗Two close relatives with the same DCTN1 variant had very different movement symptoms and respiratory courses—showing why monitoring must be individualized.
United KingdomOne family, different disease courses
↗Specialist connections
Clinicians and centers with published expertise
These contacts are drawn from peer-reviewed Perry syndrome work and current institutional profiles. Contact each center to ask about referrals, geography, telehealth, costs, and availability.
Published Perry syndrome expertise
Zbigniew K. Wszolek, MD
Mayo Clinic
Jacksonville, Florida · United States
Mayo Clinic neurologist, GeneReviews coauthor, and co-discoverer of the DCTN1 variants that cause Perry syndrome.
Contact or profile ↗Published Perry syndrome expertise
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 profile ↗Published Perry syndrome expertise
Sonia Catalina Cerquera Cleves, MD
Hospital Universitario San Ignacio
Bogotá · Colombia
Neurologist at Hospital Universitario San Ignacio and coauthor of international Perry syndrome case and review studies.
Contact or profile ↗Published Perry syndrome expertise
Department of Neurology
Fukuoka University Hospital
Fukuoka · Japan
A neurology department with a Parkinson’s clinic; its researchers led work on international Perry disease diagnostic criteria.
Contact or profile ↗This is an educational referral aid, not an endorsement or guarantee that a clinician is accepting patients. A local movement-disorders neurologist, genetic counselor, sleep specialist, or pulmonologist can also coordinate with an experienced center.
Common questions
Start with the essentials
01Is Perry syndrome the same as Parkinson’s disease?+
No. It can cause parkinsonism, but it is a distinct inherited neurodegenerative condition linked to DCTN1 and has important respiratory, mood, and weight features.
02Can someone have it without a known family history?+
Yes. Family history can be incomplete or unclear, and a new DCTN1 variant can occur. A genetics professional should interpret individual risk.
03Is genetic testing enough on its own?+
A pathogenic DCTN1 result is central, but results must be interpreted in the context of symptoms and family history. Some DCTN1 variants cause other neurologic conditions, and uncertain variants do not confirm a diagnosis.
04Why is breathing monitoring so important?+
Central hypoventilation can begin during sleep and may not be obvious to the person affected. Early respiratory assessment and follow-up can guide supportive treatment.
05Is there a cure?+
There is no cure at present. Symptom-focused care and respiratory support can improve quality of life and may extend survival; research is continuing.
Connect
No family should navigate this alone.
Reach the foundation for support, research collaboration, story submissions, or help finding an appropriate clinical starting point.
Family support
Questions about resources, next steps, or connecting with the community.
support@perrysyndrome.comClinical & research
For clinicians, investigators, publications, and research collaboration.
research@perrysyndrome.comGeneral inquiries
Partnerships, media, accessibility, and other foundation questions.
contact@perrysyndrome.comIf you or someone you know may act on suicidal thoughts, contact local emergency services or a crisis line now. In the U.S. and Canada, call or text 988.