Living with Neurodegeneration with brain iron accumulation 6
A very rare, slowly worsening nervous system condition (CoPAN) with movement problems that starts in childhood.
Understanding Neurodegeneration with brain iron accumulation 6
It has the classic features of NBIA. These include early-onset stiffness and muscle spasms in the legs, muscle spasms around the mouth and jaw, slurred speech, Parkinson-like signs, nerve problems, progressive thinking problems, complex tics, and obsessive-compulsive disorder. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Changes in walking
- Slurred speech (dysarthria)
- Muscle spasms around the mouth and jaw
- Parkinson-like symptoms
- Memory and thinking problems
- Obsessive-compulsive behaviors
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 COASY 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); 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 COASY gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: coasy neurodegeneration with brain iron accumulation; coasy protein-associated neurodegeneration; coenzyme a synthase protein associated neurodegeneration; copan; copan - coenzyme a synthase protein associated neurodegeneration; nbia6
Patient organizations
- NBIA Disorders AssociationNeurodegeneration with brain iron accumulation 6 · United States
- NBIAcureNeurodegeneration with brain iron accumulation 6 · United States
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