Living with DCTN1-related neurodegeneration
A group of rare inherited brain and nerve conditions with movement, thinking, and behavior changes, all linked to the DCTN1 gene.
Understanding DCTN1-related neurodegeneration
The DCTN1 gene helps nerve cells move materials they need to stay healthy. The conditions can look quite different from person to person, even in one family. They include Perry syndrome, certain inherited motor nerve disorders, frontotemporal dementia, ALS, and progressive supranuclear palsy. Symptoms most often begin in adulthood and usually get worse over time.
Signs & symptoms
Symptoms vary from person to person. GARD's summary says people may have combinations of these:
- Movement problems such as slowness, stiffness, or weakness
- Changes in behavior or personality
- Problems with thinking and decision-making
- Breathing difficulties
- Unexplained weight loss
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the DCTN1 gene cause these conditions. The gene helps nerve cells move materials they need to stay healthy.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with DCTN1-related neurodegeneration.
Explore research for DCTN1-related neurodegeneration
Explore actively recruiting DCTN1-related neurodegeneration studies with HealthSpark.
Find actively recruiting studies for DCTN1-related neurodegeneration with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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