Living with Adult-onset autosomal dominant demyelinating leukodystrophy
An inherited condition affecting the brain's white matter, usually starting in the forties or fifties with body-regulation and movement problems.
Understanding Adult-onset autosomal dominant demyelinating leukodystrophy
It is one of a group of conditions called leukodystrophies, which affect nerve fibers covered by a fatty substance called myelin. Symptoms usually start in the forties or fifties. The first signs often involve the autonomic nervous system, which controls body processes you don't think about, such as blood pressure and body temperature. Movement problems often follow. Symptoms may worsen during fever, infection, or heat.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bladder and bowel problems
- Dizziness from a sharp drop in blood pressure when standing
- Muscle stiffness (spasticity)
- Muscle weakness
- Trouble with balance and coordination (ataxia)
- Shaking that worsens with movement (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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in LMNB1 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 Hunter's Hope 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
Changes in the LMNB1 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: adld; adult-onset autosomal dominant leukodystrophy; autosomal-dominant or late-onset type pelizaeus-merzbacher disease; leukodystrophy, adult-onset, autosomal dominant
Patient organizations
- Hunter's Hope FoundationAdult-onset autosomal dominant demyelinating leukodystrophy · United States
- National Tay-Sachs and Allied Diseases AssociationAdult-onset autosomal dominant demyelinating leukodystrophy · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Adult-onset autosomal dominant demyelinating leukodystrophy.
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