Brown-Vialetto-van Laere syndrome 1
Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.
Also known as: Brown-Vialetto-Van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3, RTD2, Riboflavin transporter deficiency 2, SLC52A3 Brown-Vialetto-van Laere syndrome, rfvt2-related riboflavin transporter deficiency, BVVLS1.
Category: General
Symptoms associated with Brown-Vialetto-van Laere syndrome 1
The following symptoms have been associated with Brown-Vialetto-van Laere syndrome 1 in medical literature. Not everyone experiences the same symptoms.
Bulbar palsy
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X...
Diaphragmatic weakness
A decrease in the strength of the diaphragm....
Dysphagia
Difficulty in swallowing....
Dyspnea
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg sca...
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...
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Muscle weakness
Reduced strength of muscles....
Neck muscle weakness
Decreased strength of the neck musculature....
Proximal muscle weakness
A lack of strength of the proximal muscles....
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tongue fasciculations
Fasciculations or fibrillation affecting the tongue muscle....
Tests used to investigate Brown-Vialetto-van Laere syndrome 1
Healthcare providers may order these tests when evaluating Brown-Vialetto-van Laere syndrome 1. 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 Brown-Vialetto-van Laere syndrome 1, which is why a clinical evaluation is important.
Congenital myasthenic syndrome
Congenital myasthenic syndrome is a medical condition that may be associated with various symptoms and signs....
Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease due to acid maltase deficiency is a medical condition that may be associated with var...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
Presynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes is a medical condition that may be associated with various symptom...
Synaptic congenital myasthenic syndrome
Synaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms an...
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthri...
Frequently Asked Questions
What is Brown-Vialetto-van Laere syndrome 1?
Brown-Vialetto-van Laere syndrome 1 is a health condition described in medical literature. Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.
What are the symptoms of Brown-Vialetto-van Laere syndrome 1?
Brown-Vialetto-van Laere syndrome 1 is associated with 13 symptoms in the medical literature we index, including Bulbar palsy, Diaphragmatic weakness, Dysphagia, Dyspnea, External ophthalmoplegia, Facial palsy. Symptoms vary widely between individuals.
How is Brown-Vialetto-van Laere syndrome 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Brown-Vialetto-van Laere syndrome 1 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 Brown-Vialetto-van Laere syndrome 1, please discuss your symptoms with a qualified healthcare provider.