Brown-Vialetto-Van laere syndrome
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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.[1]
References
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Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Brown-Vialetto-Van laere syndrome. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Brown-Vialetto-Van laere syndrome. Click on the link to view a sample search on this topic.
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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BVVL International has a registry for people affected with Brown-Vialetto-Van laere syndrome and their families. Through this registry they hope to hasten research and thereby treatment. For more information on research progress or to participate in ongoing research, you can contact BVVL International at info@bvvlinternational.org
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