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Definition

What is Alexander disease?

Alexander disease is a very rare disorder of the nervous system. Normally, nerve fibers are covered by a fatty layer, called myelin. Myelin protects the nerve fibers and helps them transmit impulses. In Alexander disease, myelin is destroyed. This means that the transmission of nerve impulses is disrupted, and nervous system functions are impaired.

Unusual protein deposits in the specialized cells that support the brain and spinal cord are also found in people with Alexander disease.

How common is Alexander disease?

Alexander disease has been estimated to occur at a frequency of about 1 in 1 million births. No racial, ethnic, geographic, or sex preference has been observed. Although initially diagnosed primarily in young children, it is now being observed with similar frequency at all ages. According to the National Institutes of Health, only about 500 cases of Alexander disease have been reported since 1949. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Alexander disease?

The common symptoms of Alexander disease are:

  • Spasms
  • Learning disability
  • Feeding problems
  • Enlarged head size
  • Hydrocephalus (fluid in the brain)
  • Enlarged brain
  • Delayed development
  • Seizures
  • Failure to thrive
  • Impaired mobility
  • Speech problems
  • Mental regression
  • Difficulty swallowing
  • An inability to cough
  • Sleep disturbances

Alexander disease is fatal. Many infants with the condition don’t survive past the first year of life. Children who develop the disease between the ages of 4 and 10 tend to decline gradually. They can live for several years following diagnosis, and some may live into middle age.

How does it affect different age groups?

Alexander disease in children

The disorder is most commonly detected in infancy, before the age of 2. It’s characterized by:

  • Seizures
  • Stiffness in the arms and legs
  • Enlarged brain and head size
  • Learning disability
  • Developmental delay

Less frequently, the disease can develop later in childhood. Older children tend to exhibit similar symptoms to adults with the condition.

Alexander disease in adults

  • When onset occurs in older children and adults, symptoms typically include:
  • Poor coordination (ataxia)
  • Swallowing difficulties
  • Speech problems
  • Seizures

Generally, Alexander disease is less severe when it develops in adulthood. Head size and mental capacity can be completely normal at this stage. However, sometimes there’s a slow mental decline.

Alexander disease in older adults (65+)

It’s extremely rare for Alexander disease to develop this late in life. If it does, symptoms are often mistaken for those of multiple sclerosis or a brain tumor. The severity of the disease is often so mild in these cases that Alexander disease is diagnosed after death, when an autopsy reveals the unusual protein deposits in the brain.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Alexander disease?

Alexander disease is caused by a defect in the glial fibrillary acidic protein (GFAP) gene in around 90 percent of cases, according to the Genetic and Rare Diseases Information Center. The GFAP gene is involved in the development of cell structure, but more research is needed to understand GFAP’s specific role within health and disease. It’s unknown what causes Alexander disease in the small number of other cases.

The gene defect doesn’t appear to be hereditary. Instead, it seems to occur at random. Some cases of familial Alexander disease have been reported. However, this is more often in the adult form.

Risk factors

What increases my risk for Alexander disease?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Alexander disease diagnosed?

Doctors will often suspect Alexander disease based on the presented symptoms. They’ll then take a blood sample to be sent for genetic testing. In most cases, a blood test is usually all that’s needed for doctors to make a diagnosis.

How is Alexander disease treated?

Currently, there’s no cure for Alexander disease. Only the symptoms can be treated. Since there’s no specific therapy available for the condition, caregivers aim to manage the disease supportively. Particular attention is given to:

  • Overall care
  • Occupational and physical therapy
  • Nutritional needs
  • Speech therapy
  • Antibiotics for any infections developed
  • Antiepileptic drugs to control seizures

Hydrocephalus can be partially relieved by surgery. The surgery involves inserting a shunt to drain away some of the fluid in the brain and relieve the pressure on the brain.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Alexander disease?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 11, 2018 | Last Modified: February 11, 2018

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