Rare Diseases Symptoms Automatic Extraction

Instrumental methods in the diagnostics of locked-in syndrome.

[locked-in syndrome]

The locked-in syndrome (LiS) is typically characterized by a paralysis of almost all body muscles combined with intact cognitive functions. In practice, there are often additional brain damages besides the one directly causing LiS. These damages can lead to cognitive impairment, which substantially complicates the diagnosis of LiS. At the level of behavior, therefore, the disease can be confused with akinetic mutism, vegetative state (syn. unresponsive wakefulness state) and some other conditions. Using instrumental methods in addition to behavioral diagnostics helps to avoid diagnostic errors and to improve prognosis of rehabilitation of such patients. These methods, which include measurements of brain electric or magnetic fields, electrical potential of muscles, blood flow and oxygen consumption in the brain, are reviewed in this paper.

Diseases presenting "cognitive impairment" symptom

  • 22q11.2 deletion syndrome
  • cadasil
  • canavan disease
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • locked-in syndrome
  • phenylketonuria
  • sneddon syndrome
  • triple a syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated