Living with Hypermanganesemia with dystonia 2
A rare genetic condition starting in infancy or early childhood with worsening movement problems and high blood manganese.
Understanding Hypermanganesemia with dystonia 2
It usually starts in infancy or early childhood and gets worse over time. It involves movement problems and high levels of manganese in the blood. People may lose the ability to move, and have rapidly worsening muscle spasms and stiffness. They may also have trouble swallowing and speaking, and Parkinson-like signs. Walking without help can be hard. In some cases, thinking and understanding are affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Involuntary muscle contractions (dystonia)
- Parkinson-like movement signs
- Muscle spasms and stiffness (spasticity)
- Loss of ability to walk
- Loss of learned skills
- Global developmental delay
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 and genetic specialists.
- 3Consider genetic testing
Changes in SLC39A14 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
American Parkinson Disease Association, Parkinson's Foundation and Dystonia Medical Research Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: American Parkinson Disease Association, Parkinson's Foundation, Dystonia Medical Research Foundation
- 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 American Parkinson Disease Association and other patient organizations
- 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 SLC39A14 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dystonia-parkinsonism-hypermanganesemia syndrome; hmndyt2; hmndyt2 - hypermanganesemia with dystonia 2; hypermanganesemia with dystonia 2; hmndyt2; hypermanganesemia with dystonia caused by mutation in slc39a14
Patient organizations
- American Parkinson Disease AssociationHypermanganesemia with dystonia 2 · United States
- Parkinson's FoundationHypermanganesemia with dystonia 2 · United States
- Dystonia Medical Research FoundationDystonia · United States
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