Metachromatic leukodystrophy

• irritability
• decreased muscle tone
• abnormal high muscle tone, spasticity, abnormal muscle movements
• falls frequently
• decreased intellectual functioning
• speech difficulties, slurring
• feeding difficulties
• swallowing difficulty
• nerve function abnormality
• seizures

Signs include:

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

• nerve velocity conduction studies
• MRI
• CT scan
• lumbar puncture to examine the cerebrospinal fluid, which would show increased CSF total protein
• nerve biopsy -- the tissue is then stained to look for a particular color, or metachromatic, pattern
• urine chemistry -- to look for very high sulfatide levels
• urinalysis
• culture of skin fibroblasts or white blood cells -- to look for low arylsulfatase A activity
• blood test -- to look for low arylsulfatase A enzyme levels

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