AllRefer Health - Metachromatic Leukodystrophy Diagnosis & Tests (Arylsulfatase A Deficiency, MLD)

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You are here : AllRefer.com > Health > Diseases & Conditions > Metachromatic Leukodystrophy: Diagnosis, Tests, & Signs of Metachromatic Leukodystrophy

Metachromatic Leukodystrophy


•	Definition
•	Overview, Causes, & Risk Factors
•	Symptoms & Signs
•	Prevention
•	Diagnosis & Tests
•	Treatment
•	Expectations or Prognosis
•	Complications
•	Support Groups
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Alternate Names : Arylsulfatase A Deficiency, MLD

Diagnosis & Tests

Signs include:

decreased or absent deep tendon reflexes
abnormal eye movements
poor visual fixation
optic nerve atrophy
decorticate posturing
coma

Tests include:

nerve velocity conduction studies
MRI
CT scan
lumbar puncture and examination of the cerebrospinal fluid, showing increased CSF total protein
nerve biopsy (usually performed on the sural nerve) showing metachromatic deposits
urine chemistry showing markedly increased sulfatide levels
urinalysis showing metachromatic granules in the urine sediment
culture of skin fibroblasts or white blood cells for decreased arylsulfatase A activity

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• Definition
• Overview, Causes, & Risk Factors
• Symptoms & Signs
• Prevention
• Diagnosis & Tests
• Treatment
• Prognosis
• Complications
• Support Groups
• Calling Your Health Care Provider

Review Date : 2/5/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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