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Actor portrayal.

It’s important to recognize the signs and symptoms to diagnose urgently1

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Actor portrayal.

It’s important to recognize the signs and symptoms to diagnose urgently1

The life expectancy for metachromatic leukodystrophy (MLD) is tragically short2

Symptoms can be difficult to identify, and the disease progresses rapidly, so be vigilant of the early signs of MLD.4 Each MLD subtype (late infantile, early and late juvenile, and adult) has specific symptoms and rates of progression. However, all forms are progressive and fatal if left untreated.4,5

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Patients with MLD can appear healthy at birth, so look closely and act quickly.3 If you spot symptoms, order a urine sulfatide test to rule out a neurometabolic disorder, such as MLD

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Over half of the children affected by MLD show symptoms in the first 3 years of life5

Below are some symptoms of MLD based on subtype.

Select a subtype of MLD to explore its associated potential symptoms and see how they may appear in a patient affected by MLD.

Symptom affects the patient’s motor function
Symptom affects the patient’s cognitive function
Hypotonia shown when lifting head/neck6,7 (floppy neck)
Developmental delay/regression3,6,8
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Peripheral neuropathy3,6,9
Unsteady gait/toe walking/frequent falls3,6,8,10
Areflexia/hypotonia3,6,9
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Strabismus10
Nystagmus3,8,10
Educational and behavioral difficulties3,6,8
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Gait disturbance/falling/poor balance3,6,8,11
Fine motor/coordination issues3,11
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Loss of sphincter control11
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Personality changes10
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Tremors and shaking10
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Poor school performance3,6,8
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Gait disturbance/falling/poor balance3,6,8,11
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Emotional and behavioral difficulties3,6,8,12
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Cognitive and language regression6,8
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Social withdrawal6,8,12
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Tremors and shaking10
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Behavioral changes3,6
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Cognitive difficulties or disorganized thinking4,9
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Decline in school or job performance3,6,9
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Psychiatric symptoms and hallucinations3,6,8,9
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Seizures6,9
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Loss of sphincter control6,8,9
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These are illustrative or animated portrayals to show how MLD symptoms and potential impairments may display. Symptoms and experiences may vary. For illustrative purposes only.

Hear one mother’s journey to an accurate MLD diagnosis
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Most children with late infantile MLD, the most aggressive form, die within 5 years of disease onset13
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A patient presenting these symptoms could have MLD. Be sure to order a urine sulfatide test to rule out a neurometabolic disorder, such as MLD

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Learn more about prevalence and diagnosis

References: 1. Fumagalli F, Calbi V, Natali Sora MG, et al. Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access. Lancet. 2022;399:372-383. 2. Mahmood A, Berry J, Wenger DA, et al. Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature. J Child Neurol. 2010;25(5):572-580. 3. Gieselmann V, Krägeloh-Mann I. Metachromatic leukodystrophy – an update. Neuropediatrics. 2010;41:1-6. 4. Biffi A, Cesani M, Fumagalli F, et al. Metachromatic leukodystrophy-mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet. 2008;74:349-357. 5. Metachromatic leukodystrophy. National Organization for Rare Disorders. Accessed April 17, 2025. https://rarediseases.org/rare-diseases/metachromatic-leukodystrophy/#symptoms 6. Gomez-Ospina N. Arylsulfatase A deficiency. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews® [internet]. University of Washington; 1993-2024. Revised April 25, 2024. Accessed April 17, 2025. https://www.ncbi.nlm.nih.gov/books/NBK1130/ 7. Gajbhiye V, Lamture Y, Uke P. Infantile metachromatic leukodystrophy (MLD): a rare case. Cureus. 2022;14(22):e33155. 8. von Figura K, Gieselmann V, Jaeken J. Metachromatic leukodystrophy. In: The Metabolic and Molecular Bases of Inherited Disease, Volume 3. 8th ed. McGraw Hill, 2001:3695-3724. 9. Wang RY, Bodamer OA, Watson MS, et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Gen Med. 2011;13:457-484. 10. Eichler F, Sevin C, Barth M. Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy. Orphanet J Rare Dis. 2022;17:370. 11. Fumagalli F, Zambon AA, Rancoita PMV, et al. Metachromatic leukodystrophy: a single-center longitudinal study of 45 patients. J Inherit Metab Dis. 2021;44:1151-1164. 12. Harrington M, Whalley D, Twiss J, et al. Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers. Orphanet J Rare Dis. 2019;14:89. 13. Metachromatic leukodystrophy. National Institute of Neurological Disorders and Stroke. Accessed April 17, 2025. https://www.ninds.nih.gov/health-information/disorders/metachromatic-leukodystrophy?search-term=MLD.