MLD

1 What is Metachromatic Leukodystrophy?

A deficiency of an enzyme that helps break down fatty substances that cause lipids to build up in your spinal cord, peripheral nerves, and brain are called metachromatic leukodystrophy which is a rare genetic disorder.

The effect of this is your brain and nervous system lose function progressively and one of the cause is a deficient called nonenzyme protein and you may have one of the three types of metachromatic leukodystrophy, each occurs at different ages.

These are: an Infantile form that occurs at the age of 6 months to 2 years of age, Juvenile form which occurs at 3 to 6 years of age or between ages 6 to 16 and Adult form that occurs at the age of 17 up to older.

2 Symptoms

The symptoms of the three types of metachromatic leukodystrophy are as follows:

  • behavior problems,
  • frequent falls,
  • abnormal muscle movement,
  • decreased muscle tone,
  • decreased mental function,
  • incontinence,
  • a loss of muscle control,
  • irritability,
  • difficulty walking,
  • difficulty eating,
  • seizures,
  • difficulty speaking,
  • problems with nerve function,
  • difficulty swallowing.

3 Causes

Metachromatic leukodystrophy is caused by a deficiency enzyme called arylsulfatase that helps break down fatty substances that cause lipids to build up in your spinal cord, brain, and peripheral nerves.

4 Making a Diagnosis

If you are experiencing symptoms of metachromatic leukodystrophy, ask for an appointment with your physician to receive a diagnosis.

He will conduct a physical test first and some laboratory tests may include the blood test to check if you have an enzyme deficiency, urine tests to see if you have buildup sulfatides, a genetic test to see if it is in your genes, a nerve conduction study, MRI to look inside your brain.

5 Treatment

There is no cure for metachromatic leukodystrophy but your doctor may recommend treatments to manage the symptoms caused by metachromatic leukodystrophy. Treatments include:

  • medications to help control muscle movements and reduced pain,
  • therapy to improve muscle movements, speech, and quality of life,
  • nutritional assistance to cope with eating and swallowing difficulties.

6 Prevention

Metachromatic leukodystrophy cannot be prevented but you can ask your doctor for genetic testing to see if it runs in your family.

7 Alternative and Homeopathic Remedies

There is no available and effective alternative remedy that will be able to reverse the loss of function and deterioration caused by metachromatic leukodystrophy.

8 Lifestyle and Coping

When diagnosed with metachromatic leukodystrophy, it might be hard to cope and develop a normal lifestyle.

People who have this will lose all mental and muscle function.

Ask your doctor about clinical studies if you want to participate.

9 Risks and Complications

The risk factor of metachromatic leukodystrophy is that it is a genetic condition which means if you have this your child/children may acquire the same disease.

In most cases, the complication or result of metachromatic leukodystrophy is a progressive reduction in cognitive ability and early death.

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