Living with Hypermanganesemia with dystonia
An inherited condition in which manganese builds up in the body and brain, causing movement problems.
Understanding Hypermanganesemia with dystonia
Manganese builds up especially in the brain area that coordinates movement. This causes dystonia (involuntary, sustained muscle contractions) and other uncontrolled movements. There are two types, HMDPC (hypermanganesemia with dystonia 1) and hypermanganesemia with dystonia 2. In HMDPC, signs usually start in childhood, between ages 2 and 15, or in adulthood. Children often have dystonia in the arms and legs, a high-stepping walk, tremor, slow movement, and slurred speech. Adults have Parkinson-like movement problems.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes:
- Involuntary muscle contractions (dystonia)
- High-stepping walk
- Tremor
- Slow movement (bradykinesia)
- Slurred speech (dysarthria)
- Muscle rigidity and balance problems
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Two types have been found, and they have different genetic causes. In HMDPC, manganese builds up in the blood, brain, and liver.
Also known as: familial manganese-induced neurotoxicity; hmndyt - hypermanganesemia with dystonia
Patient organizations
Rare-disease groups that can help
- 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.
Explore research for Hypermanganesemia with dystonia
Explore actively recruiting Hypermanganesemia with dystonia studies with HealthSpark.
Find actively recruiting studies for Hypermanganesemia with dystonia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Hypermanganesemia with dystonia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Hypermanganesemia with dystonia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Hypermanganesemia with dystonia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.