Atypical juvenile parkinsonism

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ORPHA:391411OMIM:615528G20
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1Active trials1Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Atypical juvenile parkinsonism is a rare neurological condition that causes symptoms similar to Parkinson's disease but begins at an unusually young age, typically before age 21. Unlike the more common form of Parkinson's disease that affects older adults, this juvenile form has features that are considered 'atypical,' meaning the symptoms or disease course may differ from what is usually seen in classic Parkinson's disease. Affected individuals may experience slowness of movement (bradykinesia), muscle stiffness or rigidity, tremor, difficulty with balance and walking, and sometimes additional neurological problems such as dystonia (involuntary muscle contractions causing abnormal postures), cognitive difficulties, or psychiatric symptoms like depression and anxiety. The disease is caused by progressive changes in the brain, particularly in areas that produce dopamine, a chemical messenger important for controlling movement. Because it starts so early in life, it can significantly affect a young person's development, education, and social life. Treatment is mainly symptomatic and often involves medications used in Parkinson's disease, such as levodopa, though the response may vary. Some patients respond well to levodopa initially, while others may have a limited or fluctuating response. Supportive therapies including physical therapy, occupational therapy, and psychological support are also important parts of care. Research into the genetic causes and potential disease-modifying treatments is ongoing, but currently there is no cure.

Key symptoms:

Slowness of movementMuscle stiffness or rigidityTremor, often at restDifficulty walking or unsteady gaitInvoluntary muscle contractions causing abnormal postures (dystonia)Balance problems and frequent fallsDifficulty with fine motor tasks like writingSpeech changes such as soft or slurred speechDepression or anxietySleep disturbancesCognitive difficulties or trouble concentratingFatigue and low energyDifficulty swallowing

Clinical phenotype terms (27)— hover any for plain English
Slowed slurred speechHP:0007164Weak voiceHP:0001621AkinesiaHP:0002304Short stepped shuffling gaitHP:0007311Leg muscle stiffnessHP:0008969Abnormal nervous system physiologyHP:0012638Shuffling gaitHP:0002362
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Juvenile

Begins in the teen years

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Aug 2024The Safety, Tolerability and Preliminary Efficacy of NouvNeu001 for Early-onset Parkinson's Disease

iRegene Therapeutics Co., Ltd. — PHASE1

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Atypical juvenile parkinsonism.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Phase 11 trial
The Safety, Tolerability and Preliminary Efficacy of NouvNeu001 for Early-onset Parkinson's Disease
Phase 1
Actively Recruiting
· Sites: Wuhan, Hubei · Age: 1870 yrs

Specialists

1 foundView all specialists →

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Atypical juvenile parkinsonism.

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Community

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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.What genetic testing should be done to identify the specific cause of my condition?,How will my symptoms likely change over time, and what can I expect in the coming years?,What medications are best for my specific type of juvenile parkinsonism, and what side effects should I watch for?,Am I a candidate for deep brain stimulation surgery now or in the future?,What therapies (physical, occupational, speech) should I be doing regularly?,Are there any clinical trials or new treatments I should know about?,Should my family members be tested for the same genetic condition?

Common questions about Atypical juvenile parkinsonism

What is Atypical juvenile parkinsonism?

Atypical juvenile parkinsonism is a rare neurological condition that causes symptoms similar to Parkinson's disease but begins at an unusually young age, typically before age 21. Unlike the more common form of Parkinson's disease that affects older adults, this juvenile form has features that are considered 'atypical,' meaning the symptoms or disease course may differ from what is usually seen in classic Parkinson's disease. Affected individuals may experience slowness of movement (bradykinesia), muscle stiffness or rigidity, tremor, difficulty with balance and walking, and sometimes additiona

At what age does Atypical juvenile parkinsonism typically begin?

Typical onset of Atypical juvenile parkinsonism is juvenile. Age of onset can vary across affected individuals.

Are there clinical trials for Atypical juvenile parkinsonism?

Yes — 1 recruiting clinical trial is currently listed for Atypical juvenile parkinsonism on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Atypical juvenile parkinsonism?

1 specialists and care centers treating Atypical juvenile parkinsonism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.