Leukodystrophy disease is a rare, neurological disorder. It affects the function of your central nervous system, which includes your brain and spinal cord. When your nervous system can’t communicate with other parts of your body, your cognitive and physical functions are impacted.
Leukodystrophy is a genetic disorder that primarily affects infants and children. It’s commonly passed on from parent to child, but some types develop suddenly in adults.
Researchers have discovered more than 40 types of leukodystrophies. Symptoms of leukodystrophies get worse over time, and sometimes the disease doesn’t progress until adulthood. There is no cure, but early detection can help slow the disease and improve symptoms.
It helps to first understand your central nervous system. Your brain and spinal cord controls how your body functions, including how you move, think, eat, see and hear. Nerve fibers (axons) connect your nerve cells, which send these important messages from your brain and spine.
Nerve fibers are protected by myelin, a sheath-like insulating layer. Myelin-covered nerve fibers make up the white matter in your central nervous system.
When myelin is damaged by a disease, the signals from your nerve cells slow down or stop. This causes a range of neurological symptoms that progressively get worse.
Leukodystrophy is a type of demyelinating disease. All types of leukodystrophy affect your myelin within your white matter and central nervous system differently.
Leukodystrophy symptoms may be present at birth. They can also develop in childhood or adulthood. Early signs of leukodystrophy in children could be developmental delays or behavior problems.
Different types of leukodystrophy cause varying symptoms. Common symptoms include neurological issues like ataxia (balance and movement problems), spasticity (abnormal muscle tightness) and paralysis (loss of muscle function).
Types of leukodystrophy disease and their symptoms include:
Some types of leukodystrophies only affect adults. These include:
End stage leukodystrophy, when the disease is widespread and advanced, includes life-threatening symptoms from significant neurological impairment.
Leukodystrophies are caused by an abnormal (mutated) gene. It’s often an inherited condition but can also happen randomly.
Most types of the disorder affect men and women equally, but some types affect only men. Some ethnicities have a higher risk of leukodystrophy.
You can carry the mutated leukodystrophy gene and never develop symptoms. If you’re a carrier of the gene, you can't prevent passing it down to your children. Genetic testing can tell you if you’re a carrier of the gene.
The first steps in diagnosing a type of leukodystrophy include a review of your medical and family health history. A physical and neurological examination is also needed.
Leukodystrophy diseases can be difficult to diagnose since they cause a range of symptoms that can be related to other conditions.
Tests to diagnose a type of leukodystrophy and rule out other conditions include:
Since there is no way to reverse neurological damage, treatment will focus on delaying leukodystrophy disease progression and managing symptoms.
Treatments might include a combination of:
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