Living with Hypermanganesemia with dystonia, polycythemia, and cirrhosis
A rare condition in which manganese builds up, starting in childhood with movement problems, liver scarring, and extra red blood cells.
Understanding Hypermanganesemia with dystonia, polycythemia, and cirrhosis
It begins in childhood with movement problems such as dystonia, tremor, and slow movement. It also involves liver scarring (cirrhosis), too many red blood cells (polycythemia), and high manganese levels. Some people have stiff legs without other movement problems. Thinking skills are preserved. Brain scans show manganese deposits in certain brain areas.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Involuntary muscle contractions (dystonia)
- Tremor
- Walking and balance problems
- Slurred speech (dysarthria)
- Liver scarring and enlarged liver
- Extra red blood cells (polycythemia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC30A10 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Parkinson & Movement Disorder Alliance may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Parkinson & Movement Disorder Alliance
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Parkinson & Movement Disorder Alliance
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SLC30A10 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome; cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome; dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease; hepatic cirrhosis, dystonia, polycythemia and hypermanganesemia; hmdpc - hypermanganesemia with dystonia, polycythemia and cirrhosis; hmndyt1
Patient organizations
- Parkinson & Movement Disorder AllianceParkinsonism · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypermanganesemia with dystonia, polycythemia, and cirrhosis.
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