Overview
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome is an extremely rare inherited condition that affects the brain, nervous system, and kidneys at the same time. It is sometimes referred to by its Orphanet code ORPHA:505242. The condition is linked to problems with how the body handles manganese, a metal that is normally found in small amounts in the body and is essential for health. When manganese builds up to harmful levels in the body, it damages the brain and kidneys. Children with this syndrome typically develop normally at first, but then begin to lose skills they had already learned — such as walking, talking, or using their hands — a process called psychomotor regression. They also develop problems controlling their eye movements (oculomotor apraxia), meaning their eyes have difficulty moving smoothly or on command. Movement problems such as tremors, stiffness, or unsteady walking are also common. At the same time, the kidneys stop working properly, which can lead to serious health complications. There is currently no cure for this condition. Treatment focuses on managing symptoms, supporting kidney function, and trying to reduce manganese levels in the body. Because this disease is so rare, care is highly specialized and usually involves a team of doctors from different fields working together.
Also known as:
Key symptoms:
Loss of previously learned skills such as walking or talking (psychomotor regression)Difficulty controlling eye movements (oculomotor apraxia)Tremors or shakingStiff or rigid musclesUnsteady or uncoordinated walking (ataxia)Kidney disease or kidney failure (nephropathy)Intellectual decline or learning difficultiesHigh levels of manganese in the bloodAbnormal brain changes seen on MRI scansWeakness in the arms or legs
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome.
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 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome.
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 stage is my child's disease at, and what changes should I expect over the next few years?,Should my child start chelation therapy, and what are the risks and benefits?,What dietary changes are needed to reduce manganese intake, and can we see a specialist dietitian?,How often should kidney function be tested, and what signs should prompt an urgent visit?,Are there any clinical trials or research studies my child might be eligible for?,What therapies — physical, occupational, or speech — would help most right now?,Should other family members be tested for this condition?
Common questions about Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
What is Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome?
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome is an extremely rare inherited condition that affects the brain, nervous system, and kidneys at the same time. It is sometimes referred to by its Orphanet code ORPHA:505242. The condition is linked to problems with how the body handles manganese, a metal that is normally found in small amounts in the body and is essential for health. When manganese builds up to harmful levels in the body, it damages the brain and kidneys. Children with this syndrome typically develop normally at first, but then begin to lose skil
How is Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome inherited?
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome typically begin?
Typical onset of Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome is childhood. Age of onset can vary across affected individuals.