Living with Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
A rare progressive inherited condition that affects movement, balance and the brain's white matter.
Understanding Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
It is progressive, meaning symptoms get worse over time. Some people have symptoms from birth, such as involuntary eye movements (nystagmus) and severe stiffness of all four limbs, and may have vision and hearing problems. Others start after the first year with jerky, uncoordinated movement and loss of skills they had learned. Brain scans show reduced myelin (the coating on nerves) and a shrinking cerebellum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination (ataxia)
- Increasing muscle stiffness (spasticity)
- Involuntary eye movements (nystagmus)
- Global developmental delay
- Low muscle tone (hypotonia)
- Slurred speech
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 NKX6-2 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
National Ataxia Foundation and United Leukodystrophy 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: National Ataxia Foundation, United Leukodystrophy 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 National Ataxia Foundation 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 NKX6-2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia; autosomal recessive hypomyelinating leukodystrophy, progressive spastic ataxia; nk6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy; nkx6-2-related autosomal recessive hypomyelinating leukodystrophy; spax8; spax8 - spastic ataxia 8
Patient organizations
- National Ataxia FoundationAtaxia · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.
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