Overview
Pontine autosomal dominant microangiopathy with leukoencephalopathy, often called PADMAL, is a rare inherited disease that affects the small blood vessels in the brain. The word 'pontine' refers to the pons, a region at the base of the brain that controls important functions like balance, breathing, and movement. 'Microangiopathy' means disease of the small blood vessels, and 'leukoencephalopathy' means damage to the white matter — the parts of the brain that carry signals between different areas. Together, these changes disrupt how the brain works over time. PADMAL is caused by changes (mutations) in the COL4A1 or COL4A2 gene, which provide instructions for making a protein that supports the walls of small blood vessels. When these vessels are fragile or damaged, the brain does not get a steady, healthy blood supply. This leads to small strokes, bleeding in the brain, and progressive damage to white matter. Symptoms usually begin in adulthood and can include migraines, strokes at a young age, memory problems, difficulty walking, and mood changes. There is currently no cure for PADMAL. Treatment focuses on managing symptoms, reducing stroke risk, and supporting quality of life. This includes controlling blood pressure, avoiding medications that thin the blood too aggressively, and rehabilitation therapies. Because PADMAL is so rare and was only recently described as a distinct condition, research is still ongoing to better understand it and develop targeted treatments.
Also known as:
Key symptoms:
Recurrent migraines, often severeStroke or stroke-like episodes at a younger age than expectedMemory problems and difficulty thinking clearlyDifficulty walking or problems with balance and coordinationMood changes, depression, or personality changesWeakness or numbness on one side of the bodySlurred speechVision disturbancesFatigue and reduced energyGradual decline in daily functioning over time
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Pontine autosomal dominant microangiopathy with leukoencephalopathy.
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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 Pontine autosomal dominant microangiopathy with leukoencephalopathy.
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Caregiver Resources
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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.Which gene mutation do I have, and what does that mean for my prognosis?,Should my children or siblings be tested for this condition?,What blood pressure target should I aim for, and how should I monitor it at home?,Are there any medications I should avoid because of my condition?,How often should I have brain MRI scans to monitor changes?,Are there any clinical trials I might be eligible for?,What rehabilitation services would help me most right now?
Common questions about Pontine autosomal dominant microangiopathy with leukoencephalopathy
What is Pontine autosomal dominant microangiopathy with leukoencephalopathy?
Pontine autosomal dominant microangiopathy with leukoencephalopathy, often called PADMAL, is a rare inherited disease that affects the small blood vessels in the brain. The word 'pontine' refers to the pons, a region at the base of the brain that controls important functions like balance, breathing, and movement. 'Microangiopathy' means disease of the small blood vessels, and 'leukoencephalopathy' means damage to the white matter — the parts of the brain that carry signals between different areas. Together, these changes disrupt how the brain works over time. PADMAL is caused by changes (muta
How is Pontine autosomal dominant microangiopathy with leukoencephalopathy inherited?
Pontine autosomal dominant microangiopathy with leukoencephalopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pontine autosomal dominant microangiopathy with leukoencephalopathy typically begin?
Typical onset of Pontine autosomal dominant microangiopathy with leukoencephalopathy is adult. Age of onset can vary across affected individuals.
Which specialists treat Pontine autosomal dominant microangiopathy with leukoencephalopathy?
10 specialists and care centers treating Pontine autosomal dominant microangiopathy with leukoencephalopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.