Join the RareGuru Community
To connect, share, empower and heal today.
Don’t fight Childhood-onset neurodegeneration with brain atrophy alone.
Find your community on the free RareGuru App.We don’t have a description for this disease, disorder, or syndrome yet.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Hyperintensity of cerebral white matter on MRI |
| Abnormality of extrapyramidal motor function |
| Abnormal pyramidal sign |
| Cerebral atrophy |
| Developmental regression |
| Dysarthria |
| Dysphagia |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Dystonia |
| Absent speech |
| Spasticity |
| Inability to walk |
| Dysphasia |
| EEG abnormality |
| Gait ataxia |
| Intellectual disability, profound |
| Intellectual disability, severe |
| Microcephaly |
| Seizures |
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
1%-4% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Cerebral hemorrhage |
| Global developmental delay |
| Absent speech |
| Accelerated bone age after puberty |
| Ataxia |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
To connect, share, empower and heal today.