Brown-Vialetto-Van Laere Syndrome

Overview

Type of disease: Rare conditions

Brown-Vialetto-Van Laere syndrome (BVVL) is a type of degenerative nerve disease. Initial symptoms occur in infancy to early adulthood and progress with time. The rate of progression can vary from person to person. The syndrome is generally characterized by sensorineural deafness, paralysis of the cranial nerves, and lower and upper motor neuron disease. Signs and symptoms may include vocal cord paralysis, drooping eyelids, facial weakness, slurred speech, difficulty swallowing, diminishing eye sight, neck and shoulder weakness, weakness in the arms and legs, autonomic dysfunction, and difficulty breathing. The cause of the syndrome is currently unknown and treatment is supportive. Both genetic and sporadic cases have been reported in the medical literature. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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