Living with Metachromatic leukodystrophy
An inherited condition in which fats build up in nerve-covering cells, causing gradual loss of movement and thinking skills.
Understanding Metachromatic leukodystrophy
This causes gradual damage to the white matter of the brain, spinal cord, and nerves. Over time, thinking and movement skills decline. The most common form is the late infantile form, which usually appears in the second year of life. Children lose speech they have gained, become weak, and have trouble walking. It can start at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble walking and frequent falls
- Loss of skills already gained
- Low muscle tone, later stiffness (spasticity)
- Nerve damage in the limbs (peripheral neuropathy)
- Seizures
- Vision and hearing loss
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ARSA 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
MLD Foundation, Epilepsy Foundation and 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); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: MLD Foundation, Epilepsy 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 MLD 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 ARSA gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: arsa deficiency; arylsulfatase a deficiency; cerebral sclerosis diffuse metachromatic form; cerebroside sulfatase deficiency; deficiency of cerebroside-sulfatase; familial progressive cerebral sclerosis
Patient organizations
- MLD FoundationMetachromatic leukodystrophy · United States
- Bethany’s Hope FoundationMetachromatic leukodystrophy · Chloe's Fight Rare Disease Foundation
- Gavin Flying for a CureMetachromatic leukodystrophy · Hunter's Hope Foundation
- Leukodystrophy Resource & Research OrganisationMetachromatic leukodystrophy · RARE-X
- The Calliope Joy FoundationMetachromatic leukodystrophy · Epilepsy Foundation
- United Leukodystrophy FoundationLeukodystrophies · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Metachromatic leukodystrophy.
Explore research for Metachromatic leukodystrophy
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