Overview
Spinocerebellar ataxia with axonal neuropathy type 2, also known as SCAN2 or ataxia with oculomotor apraxia type 2 (AOA2), is a rare inherited disease that affects the nervous system. It mainly damages two parts of the body: the cerebellum (the part of the brain that controls balance and coordination) and the peripheral nerves (the nerves that run from the spinal cord to the muscles and skin). Together, this causes problems with walking, balance, and muscle control that get worse over time. The most common symptoms include unsteady walking, poor coordination, involuntary eye movement problems, and muscle weakness or wasting in the arms and legs. Many people also have elevated levels of a protein called alpha-fetoprotein (AFP) in their blood, which is a helpful clue for diagnosis. Symptoms usually begin in the teenage years, though the age of onset can vary. There is currently no cure for SCAN2/AOA2. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, and assistive devices like walkers or wheelchairs can help people stay as independent as possible. A team of specialists is usually needed to provide the best care.
Also known as:
Key symptoms:
Unsteady walking and poor balance (ataxia)Difficulty coordinating movements of the arms and handsWeakness and wasting of muscles in the hands and feetReduced or absent reflexes in the legsInvoluntary or abnormal eye movements (oculomotor apraxia)Difficulty moving the eyes smoothly to follow objectsElevated alpha-fetoprotein (AFP) levels in the bloodSlurred or slow speechTremor or shakingSensory loss or numbness in the hands and feetScoliosis (curved spine) in some peopleGradual loss of the ability to walk independently over time
Clinical phenotype terms (22)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Juvenile
Begins in the teen years
FDA & Trial Timeline
10 eventsInnervate Radiopharmaceuticals LLC (Formerly: Illumina Radiopharmaceuticals LLC) — PHASE2
Innervate Radiopharmaceuticals LLC (Formerly: Illumina Radiopharmaceuticals LLC) — PHASE2
Imperial College London — NA
Aldent University — NA
LMC Diabetes & Endocrinology Ltd. — NA
Mayo Clinic — PHASE2
LMC Diabetes & Endocrinology Ltd.
City of Hope Medical Center — PHASE2
University of East Anglia — PHASE2, PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Spinocerebellar ataxia with axonal neuropathy type 2.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Spinocerebellar ataxia with axonal neuropathy type 2 at this time.
New trials open frequently. Follow this disease to get notified.
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 Spinocerebellar ataxia with axonal neuropathy type 2.
Community
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Start the conversation →Latest news about Spinocerebellar ataxia with axonal neuropathy type 2
Disease timeline:
New recruiting trial: 18F-mFBG Cardiac Uptake With Lewy Body Dementia
A new clinical trial is recruiting patients for Spinocerebellar ataxia with axonal neuropathy type 2
New recruiting trial: The Role of SGLT2i in Management of Moderate AS
A new clinical trial is recruiting patients for Spinocerebellar ataxia with axonal neuropathy type 2
New recruiting trial: Androgen Deprivation Therapy (Relugolix) for the Improvement of Diagnostic Imaging (PSMA PET/CT Scan) in Patients With High Risk or Very High Risk Prostate Cancer, The EnrichPSMA Trial
A new clinical trial is recruiting patients for Spinocerebellar ataxia with axonal neuropathy type 2
New recruiting trial: Avoidance of Insulin-induced Lipohypertophy in People With Diabetes Using Ultrasound Scanning Within Diabetes Clinics
A new clinical trial is recruiting patients for Spinocerebellar ataxia with axonal neuropathy type 2
New recruiting trial: Treatment of High-Risk Prostate Cancer Guided by Novel Diagnostic Radio- and Molecular Tracers
A new clinical trial is recruiting patients for Spinocerebellar ataxia with axonal neuropathy type 2
New recruiting trial: Bright White Light Therapy in Reducing Cancer-Related Fatigue and Depression in Advanced Prostate Cancer Patients Undergoing Treatment With ADT Combination Therapy
A new clinical trial is recruiting patients for Spinocerebellar ataxia with axonal neuropathy type 2
New recruiting trial: NeuroCatch Reference Interval Database
A new clinical trial is recruiting patients for Spinocerebellar ataxia with axonal neuropathy type 2
New recruiting trial: Effect of Switching From Intermittently Scanned to Real-time Continuous Glucose Monitoring on Diabetes Management in Adults With Type 2 Diabetes (Switch CGM T2D)
A new clinical trial is recruiting patients for Spinocerebellar ataxia with axonal neuropathy type 2
New recruiting trial: Health-Enhancing Adapted Physical Activity Program at "Mon Stade"
A new clinical trial is recruiting patients for Spinocerebellar ataxia with axonal neuropathy type 2
New recruiting trial: Non-invasive Evaluation Program for TIPS and Follow Up Network 2 (NEPTUN2)
A new clinical trial is recruiting patients for Spinocerebellar ataxia with axonal neuropathy type 2
Caregiver Resources
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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 stage is my disease at, and what changes should I expect over the next few years?,Should other family members be tested for the SETX gene mutation?,What therapies or rehabilitation programs do you recommend for my current level of function?,Are there any clinical trials I might be eligible for?,What signs should prompt me to seek urgent medical attention?,How often should I have follow-up appointments and what tests will be repeated?,Are there any patient registries or support groups you recommend I join?
Common questions about Spinocerebellar ataxia with axonal neuropathy type 2
What is Spinocerebellar ataxia with axonal neuropathy type 2?
Spinocerebellar ataxia with axonal neuropathy type 2, also known as SCAN2 or ataxia with oculomotor apraxia type 2 (AOA2), is a rare inherited disease that affects the nervous system. It mainly damages two parts of the body: the cerebellum (the part of the brain that controls balance and coordination) and the peripheral nerves (the nerves that run from the spinal cord to the muscles and skin). Together, this causes problems with walking, balance, and muscle control that get worse over time. The most common symptoms include unsteady walking, poor coordination, involuntary eye movement problems
How is Spinocerebellar ataxia with axonal neuropathy type 2 inherited?
Spinocerebellar ataxia with axonal neuropathy type 2 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spinocerebellar ataxia with axonal neuropathy type 2 typically begin?
Typical onset of Spinocerebellar ataxia with axonal neuropathy type 2 is juvenile. Age of onset can vary across affected individuals.
Which specialists treat Spinocerebellar ataxia with axonal neuropathy type 2?
6 specialists and care centers treating Spinocerebellar ataxia with axonal neuropathy type 2 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.