Conditions / Nervous system
biotin-responsive basal ganglia disease
info · Nervous system
A basal ganglia disease that is characterized by recurrent subacute encephalopathy, with symptoms of confusion, with symptoms of seizure, with symptoms of ataxia, with symptoms of dystonia, with symptoms of supranuclear facial palsy, with symptoms of external
A basal ganglia disease that is characterized by recurrent subacute encephalopathy, with symptoms of confusion, with symptoms of seizure, with symptoms of ataxia, with symptoms of dystonia, with symptoms of supranuclear facial palsy, with symptoms of external ophthalmoplegia, and with symptoms of dysphagia.
Signs and symptoms
- Inability to walk
- Dystonia
- Dysphagia
- Developmental regression
- Loss of speech
- Abnormal pyramidal sign
- Coma
- Cogwheel rigidity
- Dysarthria
- Seizure
Also known as: biotin-thiamine-responsive basal ganglia disease