Overview
Orphanet entry 183521 refers to a rare genetic movement disorder, but this specific code does not correspond to a widely characterized or well-documented condition in the publicly available medical literature. Rare genetic movement disorders are a broad group of conditions that affect the brain's ability to control body movements. These disorders can cause symptoms such as involuntary movements (like tremors, jerks, or twisting), difficulty coordinating movements, stiffness, or problems with balance and walking. They are caused by changes (mutations) in genes that play important roles in how nerve cells communicate and control movement. Because this particular Orphanet code does not map to a condition with extensive published clinical data, specific details about its exact genetic cause, natural history, and treatment options are limited. Patients and families who have received a diagnosis linked to this code should work closely with a clinical geneticist and a movement disorder neurologist to get the most up-to-date and personalized information. Treatment for rare genetic movement disorders is often supportive and symptom-based, and may include medications to reduce abnormal movements, physical therapy, occupational therapy, and sometimes surgical options like deep brain stimulation depending on the specific condition.
Key symptoms:
Involuntary movements such as tremors or jerksDifficulty with coordination and balanceMuscle stiffness or rigidityTwisting or repetitive movements (dystonia)Difficulty walking or unsteady gaitSlow movementsSpeech difficultiesTrouble with fine motor tasks like writing or buttoning clothesFatigueDifficulty swallowing in some cases
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare genetic movement disorder.
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Rare Disease Specialist
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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 Rare genetic movement disorder.
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 test should we pursue to confirm the diagnosis?,Are there any medications that could help control the movement symptoms?,What therapies (physical, occupational, speech) would benefit my condition?,Is this condition expected to get worse over time, or could it remain stable?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for this genetic condition?,What emergency signs should we watch for, and when should we go to the hospital?
Common questions about Rare genetic movement disorder
What is Rare genetic movement disorder?
Orphanet entry 183521 refers to a rare genetic movement disorder, but this specific code does not correspond to a widely characterized or well-documented condition in the publicly available medical literature. Rare genetic movement disorders are a broad group of conditions that affect the brain's ability to control body movements. These disorders can cause symptoms such as involuntary movements (like tremors, jerks, or twisting), difficulty coordinating movements, stiffness, or problems with balance and walking. They are caused by changes (mutations) in genes that play important roles in how n
Which specialists treat Rare genetic movement disorder?
11 specialists and care centers treating Rare genetic movement disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.