Alexander's

Alexander's disease is a rare, often fatal, neurodegenerative disease that primarily affects infants and children, causing developmental delay and changes in physical characteristics. It is a type of leukodystrophy and is caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP).

Symptoms

The symptoms of Alexander's disease are typically noticeable in the first two years of life. They include seizures, mental retardation, and a delay in physical development. Other symptoms may include hydrocephalus (an accumulation of fluid in the brain), macrocephaly (an abnormally large head), and spasticity (stiffness of the limbs).

Causes

Alexander's disease is caused by mutations in the GFAP gene. This gene provides instructions for making a protein that is found in cells called astrocytes, which support and nourish nerve cells in the brain. Mutations in the GFAP gene disrupt the normal functioning of astrocytes, leading to the symptoms of Alexander's disease.

Diagnosis

The diagnosis of Alexander's disease is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include magnetic resonance imaging (MRI), which can reveal abnormalities in the brain that are characteristic of Alexander's disease.

Treatment

There is currently no cure for Alexander's disease. Treatment is symptomatic and supportive, and may include physical therapy to manage spasticity and other symptoms, medication to control seizures, and shunting to relieve hydrocephalus.

Prognosis

The prognosis for individuals with Alexander's disease varies. Some individuals have a slow progression of symptoms and live into adulthood, while others experience a rapid progression of symptoms and may not survive past childhood.

See also

• Leukodystrophy
• Neurodegenerative disease
• Genetic disorder

Alexander's Resources
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