Living with C11orf73-related autosomal recessive hypomyelinating leukodystrophy
A rare genetic brain condition starting in infancy, with stiff legs and severe developmental delay.
Understanding C11orf73-related autosomal recessive hypomyelinating leukodystrophy
It begins in infancy with stiffness in the legs (spasticity) and severe developmental delay. Myelin (the coating on nerve fibers) forms late. Other signs can include a small head, optic nerve damage, rapid eye movements (nystagmus), unsteadiness (ataxia), and seizures.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, these are the main features:
- Stiff legs (lower limb spasticity)
- Severe developmental delay
- Small head (microcephaly)
- Optic nerve damage (optic atrophy)
- Rapid eye movements (nystagmus)
- Seizures
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 HIKESHI 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); Eye disease specialists (ophthalmologists); 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 HIKESHI gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy; hypomyelinating leukodystrophy due to hikeshi deficiency
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 C11orf73-related autosomal recessive hypomyelinating leukodystrophy.
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