Thursday, February, 09, 2012

Metachromatic leukodystrophy

Table of Contents

Alternative Names

MLD; Arylsulfatase A deficiency; Leukodystrophy - metachromatic


Symptoms
  • Abnormal high muscle tone, abnormal muscle movements
  • Behavior problems
  • Decreased mental function
  • Decreased muscle tone
  • Difficulty walking
  • Feeding difficulties
  • Frequent falls
  • Inability to perform normal tasks
  • Incontinence
  • Irritability
  • Loss of muscle control
  • Nerve function problems
  • Personality changes
  • Poor school performance
  • Seizures
  • Speech difficulties, slurring
  • Swallowing difficulty

Signs and tests

Signs include:

  • Abnormal eye movements
  • Abnormal posture
  • Decreased or no deep tendon reflexes
  • Coma
  • Optic nerve atrophy

Possible tests include:

  • Blood or skin culture to look for low arylsulfatase A activity
  • Blood test to look for low arylsulfatase A enzyme levels
  • CT scan
  • DNA testing for the ARSA gene
  • MRI
  • Nerve biopsy
  • Nerve velocity conduction studies
  • Urinalysis
  • Urine chemistry

Review Date: 11/01/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)