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Alexander disease is a rare neurodegenerative disease; it falls into the category of leukodystrophies, a group of rare and inherited neurological disorders that result from problems in myelin, or the brain's "white matter".
However, the condition is more of a disease of astrocytes (an astrogliopathy) than a white matter disease (leukodystrophy). It is named after the physician W. Stewart Alexander who first described the condition in 1949.
In Alexander disease, the destruction of white matter is accompanied by the formation of Rosenthal fibres, unusual lumps of protein that accumulate in astrocytes, or non-nerve cells of the brain, leading to improper functioning of the nervous system. 
The condition is commonly found in infants as the symptoms start to show during the first two years of life. However, the symptoms can begin at any stage of life. The condition, if found in infantile form (0-1 years), may be fatal and cause the deaths of the majority of children before they reach the age of six. The disorder progresses more slowly and over a longer period of time in juvenile and adult-onset forms.
Take a look at the details of Alexander disease.
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Causes Of Alexander Disease
According to a study, Alexander disease is primarily caused by mutations in the gene GFAP, which stands for glial fibrillary acidic protein.  The gene serves an important function in the development of cell structures of the brain and central nervous system. Also, the levels of GFAP in the blood indicated injury or damage to the brain or CNS. 
Normal levels of GFAP is good for the brain, however, the mutation causes excess production of the same and results in accumulation of the proteins, leading to damage of the brain cells and myelin.
The gene mutation associated with Alexander disease is not usually inherited from a parent. It is often a sudden mutation that occurs in the individual who develops the syndrome. Some cases of Alexander disease are due to the passage of mutated gene from the affected parent.
Symptoms Of Alexander Disease
There are four forms of Alexander disease and symptoms usually occur according to these forms: neonatal, infantile, juvenile and adult.
Symptoms of neonatal form usually begin in the first 30 days after the delivery. They include: 
- Hypotonia or decreased muscle tone.
- Myoclonus or sudden involuntarily jerking of muscles.
- Developmental delay.
- Gastroesophageal reflux.
- Megalencephaly, characterised by large and heavy malfunctioned brain.
Note: Alexander disease in neonates could be severe and may cause death within two years.
Symptoms of the infantile form may include:
- Delay in the acquisition of new skills.
- Muscle spasms.
- Stiffness in the legs and arms.
- Difficulties with weight gain.
Symptoms of the juvenile form may include:
- Mild language delay.
- Speech-related problems.
- Problems in acquiring language.
- Hypophonia or vocal cord dysfunction.
- Autonomic dysfunction
Symptoms of the adult form may include:
- Palatal myoclonus or rhythmic clicking sound in the ear.
- Slow speech.
- Hyperreflexia, overresponsive or overactive reflexes.
- Problems with balanced walking or swallowing.
- Sleep apnea
- Muscle weakness in both hands and legs.
Diagnosis Of Alexander Disease
Some of the diagnostic methods for Alexander disease include:
- MRI: To look for white matter changes and abnormalities in the brain. 
- Genetic testing: Identify genetic mutation and lower the risk of the disease.
- Magnetic resonance spectroscopy: To know details on seizures occurring in the brain.
Treatments Of Alexander Disease
There is no treatment for Alexander disease; there are certain medications and therapies that help manage symptoms of the condition and improve quality of life.
Some of the supportive treatment methods may include:
- Medications: To manage seizures.
- Physcial therapy: To improve coordination and muscle weakness.
- Speech therapy: To help improve speech disorders.
The severity of Alexander disease decreases with age, meaning it is more severe during infancy and mild during old age. Consult a medical expert if the condition runs in your family.
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