biotin-responsive basal ganglia disease
Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness.
Also known as: BBGD, BTBGD, THMD2, biotin-responsive basal ganglia disease, biotin-thiamine-responsive basal ganglia disease, encephalopathy, thiamine-responsive, thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type), thiamine-responsive encephalopathy, thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type).
Category: General
Symptoms associated with biotin-responsive basal ganglia disease
The following symptoms have been associated with biotin-responsive basal ganglia disease in medical literature. Not everyone experiences the same symptoms.
Action tremor
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a vol...
Confusion
Lack of clarity and coherence of thought, perception, understanding, or action....
Dysphagia
Difficulty in swallowing....
External ophthalmoplegia
Paralysis of the external ocular muscles....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Fever
Body temperature elevated above the normal range....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate biotin-responsive basal ganglia disease
Healthcare providers may order these tests when evaluating biotin-responsive basal ganglia disease. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with biotin-responsive basal ganglia disease, which is why a clinical evaluation is important.
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Autosomal dominant progressive external ophthalmoplegia
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Idiopathic hypereosinophilic syndrome
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Lujo hemorrhagic fever
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Marchiafava-Bignami disease
Marchiafava-Bignami disease is a medical condition that may be associated with various symptoms and signs....
Miller Fisher syndrome
Miller Fisher syndrome is a medical condition that may be associated with various symptoms and signs....
Frequently Asked Questions
What is biotin-responsive basal ganglia disease?
biotin-responsive basal ganglia disease is a health condition described in medical literature. Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness.
What are the symptoms of biotin-responsive basal ganglia disease?
biotin-responsive basal ganglia disease is associated with 8 symptoms in the medical literature we index, including Action tremor, Confusion, Dysphagia, External ophthalmoplegia, Facial palsy, Fever. Symptoms vary widely between individuals.
How is biotin-responsive basal ganglia disease diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with biotin-responsive basal ganglia disease include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have biotin-responsive basal ganglia disease, please discuss your symptoms with a qualified healthcare provider.