Leukodystrophy

Leukodystrophies are a group of rare genetic disorders affecting 1 in 5000 individuals. There are more than 50 identified types of leukodystrophies – with each type being the result of a different genetic mutation, therefore causing different symptoms and age of onset. This is usually seen as a childhood condition however it can be seen later in life and into adulthood.

 In these conditions, the white matter of the brain is affected, ultimately leading to a progressive loss of brain function.

The white matter of the brain is composed of nerve fibers. In Leukodystrophy, the myelin sheath, which insulates the nerve fibers, gets damaged or is broken down. With damaged myelin, nerves can not communicate or send signals / messages affectively, impacting on brain function.

 Symptoms:

Symptoms can vary widely across different disease types but typical presentations can include impairments such as:

• Balance

• Strength

• Cognition

• Eating/swallowing

• Hearing

• Movements and coordination

• Speech

• Vision

 Treatment for leukodystrophies:

Unfortunately, there is currently no cure for leukodystrophies however there are currently multiple clinical trials with promising results.

Treatment goals surround improving quality of life and patient specific goals

Symptoms can be treated to preserve neurological function

• Such as seizure medication, hormone therapies, allied health input

How can Neuro Junction assist with the treatment for leukodystrophies?

• Occupational therapists and physiotherapists play an important role in the multidisciplinary team.

• Our therapists can work with these clients to improve/maintain mobility, strength, balance, coordination, communication, daily living skills. Our OT’s can also assist with equipment prescription and home modifications as required.

 Australian Leukodystrophy Clinical and Research Program  www.leukonet.org.au