Metachromatic Leukodystrophy Follow-up
- Author: Alan K Ikeda, MD; Chief Editor: Bruce Buehler, MD more...
Further Outpatient Care
Follow-up evaluation and treatment are often needed. A physical therapist, occupational therapist, orthopedist, ophthalmologist, neuropsychologist, and other specialists may be involved.
Inpatient & Outpatient Medications
Medications are used to provide supportive care or symptomatic relief rather than to treat the underlying cause.
Transfer
Referral or transfer to a major medical center with experience in treating inherited neurodegenerative and metabolic disorders in a multidisciplinary setting is highly recommended.
Deterrence/Prevention
Genetic counseling is important to inform the family regarding the risk of occurrence in future pregnancies. Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait. Available methods of prenatal testing should be discussed. Tests for a deficiency in enzyme activity in amniocytes or amniotic chorionic villi and gene deletion analysis may be available.
Prognosis
See Treatment and Age.
Patient Education
Numerous resources are available to families.
The MLD Foundation is the world's largest MLD-focused organization and serves hundreds of families across the globe.
The United Leukodystrophy Foundation is a nonprofit voluntary health organization dedicated to providing patients and their families with information regarding MLD and to identifying resources for families.
The National Organization for Rare Disorders (NORD) Web site includes a page titled Leukodystrophy, Metachromatic, and the National Tay-Sachs and Allied Diseases Association may provide useful information.
The National Institute of Neurological Disorders and Stroke Web site includes a page titled the NINDS Metachromatic Leukodystrophy Information Page.
A limited list of current clinical trials for many diseases can be found at ClinicalTrials.gov, which is a Web site maintained by the National Institutes of Health.
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| Form | Age at Onset (y) | Inheritance Pattern | Frequency | Neurocognitive Deficit | Progression | Effect of Bone Marrow Transplantation |
| Late infantile | < 4 | Autosomal recessive | Most common | Motor milestones lost, neurocognitive functions lost | Death within 5-6 y | Not helpful in symptomatic patients; may halt cognitive deterioration in asymptomatic patients |
| Early juvenile | 4-6 | Autosomal recessive | Less common | Motor milestones lost, learning and behavior impaired | Death within 10-15 y | May be beneficial in symptomatic and asymptomatic patients |
| Late juvenile | 6-16 | Autosomal recessive | Rare | Personality changes, behavioral changes, dementia, psychoses, decreased school or work performance | Slow | May be beneficial in asymptomatic or mildly symptomatic patients |
| Adult | >16 | Autosomal recessive | Rare | Personality changes, behavioral changes, dementia, psychoses, decreased school or work performance | Slow | May be beneficial in asymptomatic or mildly symptomatic patients |
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