Overview
Progressive polyneuropathy with bilateral striatal necrosis is an extremely rare genetic disorder that affects both the peripheral nerves and specific areas deep within the brain called the striatum (the caudate nucleus and putamen). The disease causes progressive damage to the nerves in the arms and legs (polyneuropathy), leading to weakness, numbness, and difficulty with movement. At the same time, the striatum — a brain region that helps control movement and coordination — undergoes a process called necrosis, meaning the tissue gradually dies. This combination of nerve and brain damage leads to worsening movement problems over time. Symptoms typically include progressive muscle weakness in the hands and feet, difficulty walking, loss of sensation, and movement disorders such as dystonia (involuntary muscle contractions) or chorea (jerky involuntary movements). As the disease progresses, patients may develop speech difficulties, swallowing problems, and cognitive changes. The condition is classified under metabolic disorders (ICD-10 code E88.8), suggesting an underlying metabolic or mitochondrial cause. There is currently no cure for this condition. Treatment is supportive and focuses on managing symptoms, maintaining mobility, and preventing complications. Physical therapy, occupational therapy, and medications to manage movement disorders and pain are the main approaches. Because this disease is so rare, research is limited, and management is often guided by experience with similar conditions affecting the basal ganglia and peripheral nerves.
Key symptoms:
Progressive weakness in hands and feetNumbness or tingling in arms and legsDifficulty walkingInvoluntary muscle contractions (dystonia)Jerky involuntary movements (chorea)Loss of balance and coordinationMuscle wastingSpeech difficultiesSwallowing problemsReduced reflexesVision problemsCognitive declineFatigueDifficulty with fine motor tasks like writing or buttoning clothes
Mitochondrial
Passed from mother to child through the energy-producing parts of the cell
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Progressive polyneuropathy with bilateral striatal necrosis.
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Specialists
View all specialists →No specialists are currently listed for Progressive polyneuropathy with bilateral striatal necrosis.
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 Progressive polyneuropathy with bilateral striatal necrosis.
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 the likely rate of progression for my specific case?,Are there any genetic tests that could help identify the exact cause?,What therapies or supplements might help slow the progression or manage symptoms?,How often should brain MRI and nerve conduction studies be repeated?,What signs should prompt me to seek emergency care?,Are there any clinical trials or research studies I could participate in?,What support services are available for mobility, speech, and daily living?
Common questions about Progressive polyneuropathy with bilateral striatal necrosis
What is Progressive polyneuropathy with bilateral striatal necrosis?
Progressive polyneuropathy with bilateral striatal necrosis is an extremely rare genetic disorder that affects both the peripheral nerves and specific areas deep within the brain called the striatum (the caudate nucleus and putamen). The disease causes progressive damage to the nerves in the arms and legs (polyneuropathy), leading to weakness, numbness, and difficulty with movement. At the same time, the striatum — a brain region that helps control movement and coordination — undergoes a process called necrosis, meaning the tissue gradually dies. This combination of nerve and brain damage lead
How is Progressive polyneuropathy with bilateral striatal necrosis inherited?
Progressive polyneuropathy with bilateral striatal necrosis follows a mitochondrial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.