MLD

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.

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.

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.

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.

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.

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

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

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.

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.