Rare Diseases Symptoms Automatic Extraction

[Peculiarities of cerebral structures functioning in adolescents with achondroplasia].

[achondroplasia]

Complex neurophysiological examination (rheoencephalography, electroencephalography) was carried out in 12 adolescents 12 to 18 years old in order to reveal the peculiarities of cerebral structures functioning in adolescents with achondroplasia. Some deviations from the normal values were found out: reduced blood filling of the brain vessels in the pools of a. carotis interna and a. vertebralis, rheoencephalographic signs of intracranial hypertension of mild degree and brain cycling characterized by moderate and significant amplitude increase, presence of pathological types (delta-, theta-) of the rhythmics and the reduction of the physiological ones (alpha-, beta-). At the same time the peculiarities of rheoencephalographic indices were observed while functional testings (hypercapnia, hyperoxia). Brain cycling differed from normal values by weaker response to the weight-bearing, mainly in alpha- and beta-ranges.

Diseases presenting "hypercapnia" symptom

  • achondroplasia
  • inclusion body myositis

This symptom has already been validated