MASA syndrome (Q97738): Difference between revisions
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Síndrome de MASA (atraso intelectual, afasia, marcha instável e adução de polegares) é uma síndrome de déficit intelectual ligado ao X caracterizada por espasticidade de membros inferiroes com hiperreflexia, afasia e com adução de polegares. Exames de imagem cerebral demonstram ventrículos cerebrais dilatados, estenose de aqueduto de Sylvius, hipoplasia ou agenesia do trato corticoespinhal e agenesia do corpo caloso. A síndrome é considerada pertencente ao espectro da síndrome L1. | |||
| description / en | description / en | ||
MASA syndrome (Mental retardation, Aphasia, Shuffling gait, Adductus thumbs) is an X-linked intellectual deficit syndrome (XLMR) characterised by spasticity of the lower limbs with hyperreflexia, aphasia and adductus thumbs. Brain imaging provides evidence of dilated cerebral ventricles, stenosis of the aqueduct of Sylvius, hypoplasia or agenesis of the corticospinal tract and agenesis of the corpus callosum. This syndrome is considered to belong to the L1 syndrome spectrum. | |||
Revision as of 13:51, 16 August 2026
MASA syndrome (Mental retardation, Aphasia, Shuffling gait, Adductus thumbs) is an X-linked intellectual deficit syndrome (XLMR) characterised by spasticity of the lower limbs with hyperreflexia, aphasia and adductus thumbs. Brain imaging provides evidence of dilated cerebral ventricles, stenosis of the aqueduct of Sylvius, hypoplasia or agenesis of the corticospinal tract and agenesis of the corpus callosum. This syndrome is considered to belong to the L1 syndrome spectrum.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1973644723 |
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| English | MASA syndrome |
MASA syndrome (Mental retardation, Aphasia, Shuffling gait, Adductus thumbs) is an X-linked intellectual deficit syndrome (XLMR) characterised by spasticity of the lower limbs with hyperreflexia, aphasia and adductus thumbs. Brain imaging provides evidence of dilated cerebral ventricles, stenosis of the aqueduct of Sylvius, hypoplasia or agenesis of the corticospinal tract and agenesis of the corpus callosum. This syndrome is considered to belong to the L1 syndrome spectrum. |
