Who discovered Alexander disease?

Reporting in the January 3 issue of the journal Nature Genetics, a team led by University of Wisconsin-Madison researcher Albee Messing made the discovery after a genetic analysis of 13 cases of the disease.

What are the signs and symptoms of Alexander disease?

When the disease first appears before age 4 (type I Alexander disease), symptoms can include:

  • Seizures.
  • Enlarged brain and head.
  • Stiffness in the arms or legs.
  • Delayed intellectual development.
  • Delayed physical development.
  • Recurrent vomiting and difficulties with weight gain.

How rare is Alexander?

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, nor is any expected given the de novo (new) nature of the mutations responsible for most cases.

Is there a cure 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. The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6.

How long can you live with Alexander disease?

Newborns with neonatal Alexander disease are severely disabled. Most pass away before their second birthdays. Children with the infantile type may live five to 10 years. Children with the juvenile-onset disease may live into their 30s or 40s.

What is Alexander’s illness?

Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses.

How is melkersson-Rosenthal diagnosed?

The presence of persistent or recurrent facial swelling and either facial palsy or tongue findings may be sufficient for a clinical diagnosis. A biopsy of the lips may be necessary to confirm the diagnosis and rule out possible infectious causes, recurrent angioedema, Crohn’s disease, sarcoidosis or cancers.

What kind of doctor treats white matter disease?

A radiologist, particularly a neuroradiologist, has expertise in what the brain should look like on an MRI. When evaluating for white matter disease, the radiologist will be looking for abnormal signal in the brain tissue.