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CEREBROATROPHIC HYPERAMMONEMIA [1 record]

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Record 1 2009-07-24

English

Subject field(s)
  • Nervous System
DEF

A progressive disorder affecting the gray matter of the brain, occurring exclusively in females and present from birth; it is characterized by autistic behavior, ataxia, dementia, seizures, and loss of purposeful use of the hands, with cerebral atrophy, mild hyperammonemia, and decreased levels of biogenic amines.

French

Domaine(s)
  • Système nerveux
DEF

Affection liée à l'X, ne se manifestant que chez la fille et se traduisant par une régression psychomotrice entre 6 à 18 mois évoluant vers une perturbation sévère de la vie relationnelle : la préhension volontaire disparaît et fait place à des stéréotypies consistant en un frottement ou un tapotement des mains l'une contre l'autre; par la suite, s'installent une ataxie cérébelleuse, une apraxie de la marche, une microcéphalie, des anomalies respiratoires et une épilepsie.

Spanish

Campo(s) temático(s)
  • Sistema nervioso
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