Alexander Disease

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(A rare childhood disease)

Did you know about this disease?

Many people think that osteopaths see only common, every day maladies. But we also see cases that are far more complex, if only as part of an initial assessment, before referring on to the appropriate specialist. One such condition, which can present to the osteopath as stiffness in the arms and legs of a child under the age of 2, is Alexander Disease. Whilst rare, it should not be ignored or ruled out, when considering potential diagnosis.

Alexander disease is caused by mutations in the GFAP gene

https://rarediseases.info.nih.gov/diseases/5774/alexander-disease

Alexander Disease is a type of leukodystrophy, which is identified by the destruction of the myelin sheath. Most cases present in children under the age of 2, with signs such as stiffness in the arms and legs, delayed physical development and mental retardation. In addition the brain enlarges, causing additional complications. Variations of the disease, can however, present in children aged 2-13 (the juvenile form) which demonstrates itself with a difficulty in swallowing and speaking, excessive vomiting, poor coordination and a loss of motor control.

Rarely, Alexander disease is seen in adults, but this form is much less severe and can mimic symptoms related to MS or Parkinson Disease.

For more information, follow the link to the Genetic and Rare Diseases Information Centre: https://rarediseases.info.nih.gov/diseases/5774/alexander-disease