Living with Hypomyelinating leukodystrophy 9
A rare genetic brain condition with developmental delay, muscle stiffness, and unsteady movements starting in infancy.
Understanding Hypomyelinating leukodystrophy 9
People have developmental delay, increased muscle tone that later becomes spasticity, mild poor coordination, fast eye movements, speech difficulty, tremor, and mild intellectual disability. Brain imaging shows too little myelin (hypomyelination).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Poor coordination (ataxia)
- Muscle stiffness (spasticity)
- Fast eye movements (nystagmus)
- Speech difficulty (dysarthria)
- Intention tremor
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 RARS1 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
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: 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 United Leukodystrophy Foundation
- 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 RARS1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: arginyl-trna synthetase 1-related autosomal recessive hypomyelinating leukodystrophy; hld9; hypomyelinating leukodystrophy type 9; leukodystrophy caused by mutation in rars; leukodystrophy, hypomyelinating, type 9; rars leukodystrophy
Patient organizations
- United Leukodystrophy FoundationLeukodystrophies · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypomyelinating leukodystrophy 9.
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