Overview
Kufor-Rakeb syndrome, also known as PARK9 or Pallido-pyramidal syndrome, is a very rare inherited neurological disorder that affects the brain and nervous system. It is named after the village in Jordan where it was first described. The condition belongs to a group of disorders called neurodegeneration with brain iron accumulation (NBIA), because iron tends to build up in certain parts of the brain over time. Kufor-Rakeb syndrome typically begins in the teenage years and causes symptoms similar to Parkinson's disease, but at a much younger age. People with this condition develop stiffness and slowness of movement (parkinsonism), difficulty walking, muscle spasms, and problems with eye movements. Over time, many individuals also experience intellectual decline (dementia), difficulty speaking and swallowing, and involuntary facial movements. Some people develop visual hallucinations. There is currently no cure for Kufor-Rakeb syndrome. Treatment focuses on managing symptoms. Levodopa, a medication commonly used for Parkinson's disease, may help with movement problems in the early stages, but its effectiveness often decreases over time. Physical therapy, speech therapy, and occupational therapy are important parts of ongoing care. Research is continuing to better understand this condition and find more effective treatments.
Also known as:
Key symptoms:
Stiffness and slowness of movement (parkinsonism)Difficulty walking and balance problemsMuscle spasms and rigidityAbnormal eye movements, especially difficulty looking upwardIntellectual decline and dementiaDifficulty speaking clearlyDifficulty swallowingInvoluntary facial or jaw movementsVisual hallucinationsTremorLoss of facial expression (mask-like face)Behavioral and psychiatric changesMini-strokes or mini-seizure-like episodesProgressive loss of independence
Clinical phenotype terms (44)— 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
Treatments
No FDA-approved treatments are currently listed for Kufor-Rakeb syndrome.
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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 Kufor-Rakeb syndrome.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How quickly do you expect symptoms to progress in my case?,Is levodopa likely to help, and for how long might it remain effective?,What therapies (physical, speech, occupational) should we start now?,Are there any clinical trials or research studies I could participate in?,What signs should I watch for that would need urgent medical attention?,How should we plan for changes in cognitive function over time?,Can you refer us to a genetic counselor to discuss family planning and testing for other family members?
Common questions about Kufor-Rakeb syndrome
What is Kufor-Rakeb syndrome?
Kufor-Rakeb syndrome, also known as PARK9 or Pallido-pyramidal syndrome, is a very rare inherited neurological disorder that affects the brain and nervous system. It is named after the village in Jordan where it was first described. The condition belongs to a group of disorders called neurodegeneration with brain iron accumulation (NBIA), because iron tends to build up in certain parts of the brain over time. Kufor-Rakeb syndrome typically begins in the teenage years and causes symptoms similar to Parkinson's disease, but at a much younger age. People with this condition develop stiffness and
How is Kufor-Rakeb syndrome inherited?
Kufor-Rakeb syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Kufor-Rakeb syndrome typically begin?
Typical onset of Kufor-Rakeb syndrome is juvenile. Age of onset can vary across affected individuals.
Which specialists treat Kufor-Rakeb syndrome?
2 specialists and care centers treating Kufor-Rakeb syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.