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Metachromatic Leukodystrophy Learning Center

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Welcome

Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, muscles, and other organs. It gets progressively worse over time. MLD is usually caused by the lack of an important enzyme called arylsulfata...

Basic Info

Symptoms
Irritability; Decreased muscle tone; Abnormal high muscle tone, spasticity, abnormal muscle movements; Frequent falls; ...
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Causes
MLD is usually caused by the lack of an important enzyme called arylsulfatase A. Because this enzyme is missing, chemic...
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Tests
Signs include: Decreased or absent deep tendon reflexes; Abnormal eye movements; Poor visual fixation; Optic nerve atro...
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Treatments
There is no cure for MLD. Care focuses on treating the symptoms and preserving the patient's quality of life. Research ...
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Alternative Therapies
For additional information and resources, see the United Leukodystrophy Association at www.ulf.org.
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Complications
  • Death
  • Neurasthenia
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Prevention
Genetic counseling is recommended if you have a family history of this disorder.
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Doctor Specialties
  • Hematologist
  • Internist
  • Neurologist
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Basic Info

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