Hypomyelination with atrophy of basal ganglia or cerebellum (Q98022): Difference between revisions
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Hipomielinização com atrofia de gânglios de base e cerebelo é caracterizada por espasticidade lentamente progressiva, transtornos de movimento extra-piramidais (distonia, coreatetose e rigidez), ataxia cerebelar, déficit cognitivo moderado a grave, anartria/disartria, e achados na RNM cerebral característicos de hipomielinização difusa mas parcial dos hemisférios cerebrais, atrofia cerebelar leve a grave e atrofia dos gânglios da base. | |||
| description / en | description / en | ||
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterised by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria, and distinctive MRI findings of diffuse but partial hypomyelination of the cerebral hemispheres, mild to severe cerebellar atrophy and atrophy of the basal ganglia. | |||
Revision as of 14:16, 16 August 2026
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterised by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria, and distinctive MRI findings of diffuse but partial hypomyelination of the cerebral hemispheres, mild to severe cerebellar atrophy and atrophy of the basal ganglia.
| Language | Label | Description | Also known as |
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| default for all languages | ID_267638596 |
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| English | Hypomyelination with atrophy of basal ganglia or cerebellum |
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterised by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria, and distinctive MRI findings of diffuse but partial hypomyelination of the cerebral hemispheres, mild to severe cerebellar atrophy and atrophy of the basal ganglia. |
