Rare diseases · Sign or symptom
Global brain atrophy
Generalized brain degeneration
HP:0002283
What it means
Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
Global brain atrophy can be visualized and quantified by magnetic resonance imaging.
Rare diseases that can present with this24
Common30–79%
7- Inherited Creutzfeldt-Jakob disease
- Mohr-Tranebjaerg syndrome
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Spinocerebellar ataxia with axonal neuropathy type 1
- TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
- X-linked cerebral adrenoleukodystrophy
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Diffuse brain atrophy · Generalised brain atrophy · Generalised brain degeneration · Generalised cerebral atrophy · Generalized brain atrophy · Generalized cerebral atrophy
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.