Living with Neurodegeneration with brain iron accumulation 4
A nervous system condition (MPAN) that starts in childhood or early adulthood with trouble walking and gets worse over time.
Understanding Neurodegeneration with brain iron accumulation 4
It usually begins in childhood or early adulthood, often with trouble walking. Other movement problems follow, including muscle stiffness, involuntary muscle cramping (dystonia), and Parkinson-like signs. Optic atrophy can affect vision. Speech and swallowing problems and loss of bladder and bowel control can occur later. Some people develop memory loss and mood or behavior changes. Iron builds up in certain brain areas.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble walking
- Muscle stiffness (spasticity)
- Involuntary muscle cramping (dystonia)
- Slurred speech (dysarthria)
- Vision loss from optic atrophy
- Memory and thinking decline
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in C19orf12 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 NBIA Disorders 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
GARD lists changes in the C19orf12 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: c19orf12 neurodegeneration with brain iron accumulation; mitochondrial membrane protein associated neurodegeneration; mitochondrial membrane protein-associated neurodegeneration; mitochondrial protein associated neurodegeneration; mitochondrial protein-associated neurodegeneration; mpan
Patient organizations
- NBIA Disorders AssociationNeurodegeneration with brain iron accumulation 4 · United States
- NBIAcureNeurodegeneration with brain iron accumulation 4 · United States
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