Arthrogryposis epileptic seizures migrational brain disorder

Synonyms

1

Overview

A rare disorder characterized by congenital joint contractures, epileptic seizures and brain development abnormalities.

Symptoms

  • Narrow palate
  • Amyotrophy
  • Muscle agenesis
  • Seizures
  • Coarse hair
  • Thick hair
  • Torticollis
  • Dense scalp hair
  • Facial structural asymmetry
  • Hairy patch
  • Highly arched palate
  • Mild mental retardation
  • Ptosis

Causes

It can be caused by fetal exposure to alcohol or chemical products.

Diagnosis

To date, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to rule out other causes. This is done by undertaking muscle biopsies, blood tests and general clinical findings rule out other disorders and provides evidence for AMC

Resources

  • NIH