Autosomal recessive cerebral atrophy

Orpha code: 363969OMIM code:

Definition

A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.

Disease data
Classification

Disease

ORPHA code
363969
OMIM code
-
ICD10 code
G31.8
ICD11 code
-

No additional description.

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