Living with Hypomyelinating leukodystrophy 6
A nervous system condition, also called TUBB4A-related leukodystrophy, with too little myelin and movement problems from infancy or childhood.
Understanding Hypomyelinating leukodystrophy 6
White matter is made of nerve fibers covered by myelin, which helps nerve signals travel quickly. In this condition the body makes too little myelin, and it may break down. People have different combinations of symptoms. A more severe type, H-ABC, begins in infancy or early childhood. It brings delayed motor skills, or lost skills, movement problems such as dystonia, stiffness, and poor coordination, and speech and swallowing difficulty.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed motor skills
- Loss of learned skills
- Involuntary muscle contractions (dystonia)
- Poor coordination (ataxia)
- Speech difficulty (dysarthria)
- Tremor and muscle stiffness
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 TUBB4A 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 Foundation to Fight H-ABC 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 TUBB4A gene cause this condition. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: h-abc; h-abc - hypomyelination, atrophy of basal ganglia and cerebellum; habc; hld6; hypomyelinating leukodystrophy type 6; hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
Patient organizations
- Foundation to Fight H-ABCHypomyelinating leukodystrophy 6 · United States
- A Rare RubyHypomyelinating leukodystrophy 6 · United States
- Hunter's Hope FoundationHypomyelinating leukodystrophy 6 · United States
- Kinslow TUBB4A FoundationHypomyelinating leukodystrophy 6 · United Leukodystrophy Foundation
You are more than your diagnosis
Perspectives from people navigating life with Hypomyelinating leukodystrophy 6.
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