Overview
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (also known as CDPH syndrome or SLC30A10 deficiency) is an extremely rare inherited metabolic disorder caused by the body's inability to properly remove manganese from the blood. Manganese is a mineral that the body needs in small amounts, but when it builds up to very high levels, it becomes toxic. In this condition, manganese accumulates in the liver and brain, leading to serious problems in both organs. The main features of this disease include liver cirrhosis (scarring of the liver), dystonia (involuntary muscle contractions causing abnormal postures and movements), polycythemia (an abnormally high number of red blood cells), and hypermanganesemia (very high manganese levels in the blood). Patients often develop difficulty walking, tremors, slurred speech, and progressive liver damage. Symptoms typically begin in childhood, though the age of onset can vary. Treatment focuses on lowering manganese levels in the body. Chelation therapy, which uses medications that bind to manganese and help the body excrete it, is the primary treatment approach. Iron supplementation may also help reduce manganese absorption. Early diagnosis and treatment are important because they can slow or even partially reverse some of the neurological and liver damage. Without treatment, the disease tends to progress and can be life-threatening due to liver failure or severe neurological decline.
Key symptoms:
Liver cirrhosis (scarring of the liver)Involuntary muscle contractions and abnormal postures (dystonia)High number of red blood cells (polycythemia)Very high manganese levels in the bloodDifficulty walking or unsteady gaitTremorsSlurred speechMuscle stiffness or rigidityFatigue and weaknessEnlarged liverJaundice (yellowing of the skin and eyes)Difficulty with fine motor tasks like writingCognitive difficulties in some casesAbnormal brain MRI showing manganese deposits
Clinical phenotype terms (39)— hover any for plain English
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 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome.
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Specialists
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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 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome.
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Questions for your doctor
Bring these to your next appointment
- Q1.How high are my (or my child's) manganese levels, and what is the target level with treatment?,How often will chelation therapy be needed, and how is it given?,What signs of worsening should I watch for at home?,How much neurological improvement can we expect with treatment?,What is the current state of the liver, and will a liver transplant be needed?,Are there dietary changes that can help reduce manganese levels?,Should other family members be tested for this condition?
Common questions about Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
What is Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome?
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (also known as CDPH syndrome or SLC30A10 deficiency) is an extremely rare inherited metabolic disorder caused by the body's inability to properly remove manganese from the blood. Manganese is a mineral that the body needs in small amounts, but when it builds up to very high levels, it becomes toxic. In this condition, manganese accumulates in the liver and brain, leading to serious problems in both organs. The main features of this disease include liver cirrhosis (scarring of the liver), dystonia (involuntary muscle contractions causi
How is Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome inherited?
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome typically begin?
Typical onset of Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome is childhood. Age of onset can vary across affected individuals.