Metachromatic leukodystrophy

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MLD; Arylsulfatase A deficiency; Leukodystrophy - metachromatic

• Irritability
• Decreased muscle tone
• Abnormal high muscle tone, spasticity, abnormal muscle movements
• Frequent falls
• Decreased intellectual functioning
• Speech difficulties , slurring
• Feeding difficulties
• Swallowing difficulty
• Nerve function problems
• Seizures

Signs include:

• Decreased or absent deep tendon reflexes
• Abnormal eye movements
• Poor visual fixation
• Optic nerve atrophy
• Posture abnormalities
• Coma

Possible tests include:

• Nerve velocity conduction studies
• MRI
• CT scan
• Lumbar puncture
• Nerve biopsy
• Urine chemistry
• Urinalysis
• Blood or skin culture to look for low arylsulfatase A activity
• Blood test to look for low arylsulfatase A enzyme levels

Review Date: 12/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.