Miscellaneous movement disorder due to genetic neurodegenerative disease

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Overview

Miscellaneous movement disorder due to genetic neurodegenerative disease is a broad category that refers to a group of rare inherited conditions where the brain and nervous system gradually break down over time, leading to problems with movement. These disorders are caused by changes (mutations) in various genes that are important for the normal function and survival of nerve cells. As nerve cells become damaged or die, patients develop abnormal movements that may include tremors (shaking), dystonia (involuntary muscle contractions causing twisting postures), chorea (jerky involuntary movements), ataxia (problems with balance and coordination), or other unusual movement patterns. The specific symptoms, age when they first appear, and how quickly they progress can vary widely depending on the exact genetic cause. Some forms begin in childhood, while others may not show up until adulthood. Over time, movement difficulties often worsen and may be accompanied by cognitive decline, speech problems, difficulty swallowing, and loss of independence. Currently, there are no cures for most genetic neurodegenerative movement disorders. Treatment focuses on managing symptoms and improving quality of life. Medications may help control specific movement problems, and physical therapy, occupational therapy, and speech therapy play important roles in maintaining function for as long as possible. Research into gene therapies and disease-modifying treatments is ongoing and offers hope for the future.

Key symptoms:

Tremors or shakingInvoluntary muscle contractions causing abnormal postures (dystonia)Jerky, dance-like involuntary movements (chorea)Problems with balance and coordination (ataxia)Stiffness or rigidity of musclesSlow movementsDifficulty walkingSlurred or unclear speechDifficulty swallowingMemory problems or cognitive declinePersonality or behavior changesVision problemsMuscle weaknessLoss of fine motor skills (e.g., difficulty writing or buttoning clothes)Seizures in some forms

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Miscellaneous movement disorder due to genetic neurodegenerative disease.

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No actively recruiting trials found for Miscellaneous movement disorder due to genetic neurodegenerative disease at this time.

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No specialists are currently listed for Miscellaneous movement disorder due to genetic neurodegenerative disease.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 Miscellaneous movement disorder due to genetic neurodegenerative disease.

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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 specific genetic condition is causing my movement problems, and what gene is involved?,How is this condition likely to progress over time?,What treatments or therapies are available to manage my symptoms?,Are there any clinical trials I might be eligible for?,Should my family members be tested for this genetic condition?,What specialists should be part of my care team?,What can I do at home to maintain my mobility and independence for as long as possible?

Common questions about Miscellaneous movement disorder due to genetic neurodegenerative disease

What is Miscellaneous movement disorder due to genetic neurodegenerative disease?

Miscellaneous movement disorder due to genetic neurodegenerative disease is a broad category that refers to a group of rare inherited conditions where the brain and nervous system gradually break down over time, leading to problems with movement. These disorders are caused by changes (mutations) in various genes that are important for the normal function and survival of nerve cells. As nerve cells become damaged or die, patients develop abnormal movements that may include tremors (shaking), dystonia (involuntary muscle contractions causing twisting postures), chorea (jerky involuntary movement