Living with Infantile neuroaxonal dystrophy
An inherited nervous system disorder in which babies lose skills after a period of normal development.
Understanding Infantile neuroaxonal dystrophy
Children typically have no symptoms at birth. Between about 6 and 18 months they have delays in new skills, such as crawling or speaking, then lose skills they had gained. Muscles are first weak and floppy, then stiff. Some people first show signs later in childhood or the teenage years, and progress more slowly.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in motor and thinking skills
- Loss of skills already gained
- Weak, floppy muscles that later become stiff
- Poor balance and coordination (ataxia)
- Feeding trouble
- Breathing 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
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PLA2G6 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
The Foundation for Peripheral Neuropathy 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: The Foundation for Peripheral Neuropathy
- 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
Changes in the PLA2G6 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: inad; inad - infantile neuroaxonal dystrophy; inad1; infantile neuroaxonal dystrophy 1; nbia2a; neurodegeneration with brain iron accumulation 2a
Patient organizations
- NBIA Disorders AssociationInfantile neuroaxonal dystrophy · United States
- NBIAcureInfantile neuroaxonal dystrophy · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile neuroaxonal dystrophy.
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