Brown-Vialetto-van Laere syndrome 2
Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.
Also known as: BVVLS2, Brown-Vialetto-Van Laere syndrome type 2, Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2, SLC52A2 Brown-Vialetto-van Laere syndrome.
Category: General
Symptoms associated with Brown-Vialetto-van Laere syndrome 2
The following symptoms have been associated with Brown-Vialetto-van Laere syndrome 2 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...
Dysphagia
Difficulty in swallowing....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
Neck muscle weakness
Decreased strength of the neck musculature....
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....
Visual loss
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term re...
Tests used to investigate Brown-Vialetto-van Laere syndrome 2
Healthcare providers may order these tests when evaluating Brown-Vialetto-van Laere syndrome 2. 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 2, which is why a clinical evaluation is important.
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....
Congenital myasthenic syndrome
Congenital myasthenic syndrome is a medical condition that may be associated with various symptoms and signs....
Full NF2-related schwannomatosis
Full NF2-related schwannomatosis is a medical condition that may be associated with various symptoms and signs...
Presynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes is a medical condition that may be associated with various symptom...
myasthenic syndrome, congenital, 1B, fast-channel
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-o...
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in...
Frequently Asked Questions
What is Brown-Vialetto-van Laere syndrome 2?
Brown-Vialetto-van Laere syndrome 2 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 SLC52A2 gene.
What are the symptoms of Brown-Vialetto-van Laere syndrome 2?
Brown-Vialetto-van Laere syndrome 2 is associated with 8 symptoms in the medical literature we index, including Bulbar palsy, Dysphagia, Facial palsy, Limb muscle weakness, Neck muscle weakness, Sensorineural hearing impairment. Symptoms vary widely between individuals.
How is Brown-Vialetto-van Laere syndrome 2 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 2 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 2, please discuss your symptoms with a qualified healthcare provider.