How Is Leukodystrophy Diagnosed?


Quick Answer

Doctors diagnose leukodystrophy with an exam, brain imaging and a variety of tests on body fluids and nerves, according to Mount Sinai Hospital. The physician asks about the patient's medical history and symptoms before deciding what tests are needed.

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Doctors may take images of the brain with either an MRI or a CT scan, Mount Sinai Hospital explains. The patient may require tests such as a lumbar puncture, urinalysis, blood test, or a nerve or brain biopsy so the doctor can examine body fluids. Doctors may decide to conduct an evoked potential test or nerve conduction testing.

Leukodystrophy is a rare condition in which myelin, which makes up the brain's white matter, breaks down, Mount Sinai Hospital states. Myelin protects nerves as they send signals in the brain. When myelin breaks down, the brain has a difficult time functioning.

Doctors discover leukodystrophy most often in infants and children; however, sometimes the disorder doesn't appear until adolescence or early adulthood, Mount Sinai Hospital reports. The condition includes 10 distinctive diseases in which the myelin breaks down. A particular genetic defect causes each disease.

Doctors prescribe a variety of treatments for leukodystrophy. It may be managed with medication, nutrition, recreation and education. Sometimes physical, occupational or speech therapy is required. In some cases, a bone marrow transplant can slow leukodystrophy's progression.

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