Overview
Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency is an extremely rare genetic brain disorder that affects movement and thinking abilities. This condition is now classified under broader categories of DNAJC6-related neurodegeneration, which is why it carries an 'obsolete' label in some databases, but the underlying disease is still very real for affected individuals. The DNAJC6 gene provides instructions for making a protein called auxilin, which plays an important role in how brain cells communicate with each other. When this gene does not work properly, it leads to the gradual loss of nerve cells that produce dopamine — a chemical messenger essential for smooth, controlled movement. This is similar to what happens in Parkinson's disease, but it begins much earlier in life, typically during childhood or the teenage years. Key symptoms include progressive stiffness and slowness of movement (parkinsonism), tremor, difficulty walking, intellectual disability, and sometimes seizures. The disease tends to get worse over time. Treatment is mainly supportive, as there is currently no cure. Some patients may respond partially to levodopa (a medication commonly used in Parkinson's disease), but the response is often limited or decreases over time. Physical therapy, speech therapy, and educational support are important parts of managing daily life.
Key symptoms:
Slowness of movementMuscle stiffness and rigidityTremorDifficulty walking and balance problemsIntellectual disabilitySeizures or epilepsySpeech difficultiesDifficulty swallowingLoss of previously learned skillsAbnormal posture (dystonia)Behavioral changesPoor coordinationReduced facial expression
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How quickly do you expect my child's symptoms to progress?,Would a trial of levodopa or other Parkinson's medications be appropriate?,What therapies (physical, speech, occupational) should we start right away?,Are there any clinical trials or research studies my child could participate in?,How should we manage seizures if they develop?,What signs should prompt us to seek emergency care?,Can you refer us to a movement disorder specialist experienced with childhood parkinsonism?
Common questions about OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency
What is OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency?
Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency is an extremely rare genetic brain disorder that affects movement and thinking abilities. This condition is now classified under broader categories of DNAJC6-related neurodegeneration, which is why it carries an 'obsolete' label in some databases, but the underlying disease is still very real for affected individuals. The DNAJC6 gene provides instructions for making a protein called auxilin, which plays an important role in how brain cells communicate with each other. When this gene does not work properly, it leads to
How is OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency inherited?
OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency typically begin?
Typical onset of OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency is juvenile. Age of onset can vary across affected individuals.