Metachromatic Leukodystrophy Follow-up

Updated: Aug 21, 2014
  • Author: Alan K Ikeda, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Follow-up

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.

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Inpatient & Outpatient Medications

Medications are used to provide supportive care or symptomatic relief rather than to treat the underlying cause.

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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.

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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. Multiple genetic mutations have been implicated as causes of this disorder. 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.

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Prognosis

See Treatment and Age.

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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 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.

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.

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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