Brown-Vialetto-Van Laere syndrome
Encyclopedia
The Brown-Vialetto-Van Laere syndrome (BVVL), sometimes better known as Brown's Syndrome, is an exceptionally rare neurological
disorder of unknown cause, characterized primarily by deafness
and paralysis
of the muscles of the face, neck, shoulders and limbs. The neurological manifestations develop insidiously: they usually begin with sensorineural deafness, progress inexorably to paralysis, and often culminate in respiratory failure
. The syndrome affects children, adolescents, and younger adults; the age at onset of symptoms in the reported cases has ranged from infancy to the third decade of life. The prognosis is poor — most patients diagnosed with the syndrome die within 10 years. There is no cure.
The gene defective in at least some patients with BVVL has been identified by a team of British researchers: C20orf54
. This gene is thought to be involved in transport of riboflavin
It has been proposed that Fazio-Londe disease and Brown-Vialetto-Van-Laere syndrome are a phenotypically associated condition.
Neurology
Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...
disorder of unknown cause, characterized primarily by deafness
Hearing impairment
-Definition:Deafness is the inability for the ear to interpret certain or all frequencies of sound.-Environmental Situations:Deafness can be caused by environmental situations such as noise, trauma, or other ear defections...
and paralysis
Paralysis
Paralysis is loss of muscle function for one or more muscles. Paralysis can be accompanied by a loss of feeling in the affected area if there is sensory damage as well as motor. A study conducted by the Christopher & Dana Reeve Foundation, suggests that about 1 in 50 people have been diagnosed...
of the muscles of the face, neck, shoulders and limbs. The neurological manifestations develop insidiously: they usually begin with sensorineural deafness, progress inexorably to paralysis, and often culminate in respiratory failure
Respiratory failure
The term respiratory failure, in medicine, is used to describe inadequate gas exchange by the respiratory system, with the result that arterial oxygen and/or carbon dioxide levels cannot be maintained within their normal ranges. A drop in blood oxygenation is known as hypoxemia; a rise in arterial...
. The syndrome affects children, adolescents, and younger adults; the age at onset of symptoms in the reported cases has ranged from infancy to the third decade of life. The prognosis is poor — most patients diagnosed with the syndrome die within 10 years. There is no cure.
The gene defective in at least some patients with BVVL has been identified by a team of British researchers: C20orf54
C20orf54
Chromosome 20 open reading frame 54, also known as riboflavin transporter 2, is a protein that in humans is encoded by the C20orf54 gene.- Function :This locus likely encodes a transmembrane protein that may function as a riboflavin transporter....
. This gene is thought to be involved in transport of riboflavin
It has been proposed that Fazio-Londe disease and Brown-Vialetto-Van-Laere syndrome are a phenotypically associated condition.