Overview
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is a rare inherited neurological disorder that progressively damages the cerebellum and other parts of the brain and spinal cord. The cerebellum is the part of the brain that controls balance and coordination, so when it is damaged, movement becomes increasingly difficult over time. People with SCA3 experience a gradual worsening of their ability to walk, speak, and swallow. The disease also affects eye movements, causing double vision or involuntary eye movements. Some people develop muscle stiffness, weakness, or uncontrollable muscle twitching. Cognitive changes and sleep problems can also occur. Symptoms usually begin in adulthood, though the age of onset can vary widely — even within the same family. There is currently no cure for SCA3, and no treatment has been proven to slow the disease's progression. Care focuses on managing symptoms and maintaining quality of life for as long as possible. Physical therapy, speech therapy, and occupational therapy play important roles in helping people stay as independent as possible. Researchers are actively studying gene-silencing therapies and other approaches that may one day slow or stop the disease.
Key symptoms:
Loss of balance and coordination (ataxia)Unsteady, stumbling walk (gait problems)Slurred or slow speech (dysarthria)Difficulty swallowing (dysphagia)Involuntary eye movements (nystagmus)Double vision or difficulty controlling eye movementsMuscle stiffness or rigidityMuscle weakness in the limbsMuscle cramps or twitching (fasciculations)Numbness or tingling in the hands and feetRestless legs or sleep disturbancesUrinary urgency or incontinenceMild memory or thinking difficultiesFatigueDrooping eyelids (ptosis)
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare genetic neurological disorder.
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Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
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 neurological 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 is my CAG repeat number, and what does that mean for when my symptoms might progress?,What therapies — physical, speech, or occupational — should I start now, even if my symptoms are mild?,Are there any clinical trials for SCA3 that I might be eligible to join?,What should I watch for that would mean I need to come in urgently or go to the emergency room?,Should my children or siblings be tested, and how should we approach that conversation?,What community or online support resources are available for people with SCA3 and their families?,How often should I be seen, and which specialists should be part of my care team?
Common questions about Rare genetic neurological disorder
What is Rare genetic neurological disorder?
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is a rare inherited neurological disorder that progressively damages the cerebellum and other parts of the brain and spinal cord. The cerebellum is the part of the brain that controls balance and coordination, so when it is damaged, movement becomes increasingly difficult over time. People with SCA3 experience a gradual worsening of their ability to walk, speak, and swallow. The disease also affects eye movements, causing double vision or involuntary eye movements. Some people develop muscle stiffness, weakness,
How is Rare genetic neurological disorder inherited?
Rare genetic neurological disorder follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Rare genetic neurological disorder?
12 specialists and care centers treating Rare genetic neurological disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.