How is Alexander disease diagnosed?

How is Alexander disease diagnosed?

Diagnosis of Alexander disease is made based on the physical symptoms, imaging of the brain and the results of genetic tests. Magnetic resonance imaging (MRI) of the brain is a key diagnostic tool, as it can detect patterns in brain tissue that are characteristic of Alexander disease.

How do you get Alexander disease?

Causes. About 95% of Alexander disease cases are caused by mutations in a gene called GFAP for a structural protein called glial fibrillary acidic protein that is found exclusively in astrocytes in the CNS. The cause of the other 5% of cases is not known. The GFAP mutations are dominant.

What is treatment for Alexander disease?

There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive. Prognosis. The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6.

Is Alexander disease curable?

There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive. The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6.

Who does Alexander disease affect?

The juvenile form of Alexander Disease usually presents between age 4 and into the early teen years. The most common time frame of diagnosis for this onset is between the age of 4 and 10 years of age. Approximately 14% of Alexander’s Disease diagnosis are juvenile onset.

Are all leukodystrophy fatal?

Leukodystrophies are progressive, so the neurological problems get worse over time. They’re usually fatal. Many children with leukodystrophy die before their teenage years. Some people survive into adulthood.

What is the outcome of Alexander disease?

Prognosis. The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6. Juvenile and adult onset forms of the disorder have a slower, more lengthy course.

Why is leukodystrophy fatal?

Leukodystrophies lead to a progressive loss of neurological function. The brain and the body can’t receive signals from each other. These diseases are often fatal.

Is leukodystrophy painful?

Symptoms of metachromatic leukodystrophy may include seizures, personality changes, spasticity, progressive dementia, painful paresthesias, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.

How long do kids with leukodystrophy live?

The prognosis for MLD is poor. Most children within the infantile form die by age 5. Symptoms of the juvenile form progress with death occurring 10 to 20 years following onset. Those persons affected by the adult form typically die withing 6 to 14 years following onset of symptoms.