Brown–Vialetto–Van Laere syndrome

Brown–Vialetto–Van Laere syndrome (also known as BVVL syndrome) is a rare neurological disorder that became known in 1894. It is characterized by progressive neurological dysfunction, including cranial nerve palsies and sensorineural hearing loss.

Symptoms

The symptoms of BVVL syndrome can vary greatly from person to person. However, common symptoms include:

• Sensorineural hearing loss
• Facial weakness
• Difficulty swallowing (dysphagia)
• Weakness of the limbs
• Respiratory problems

Causes

BVVL syndrome is caused by mutations in the SLC52A2 or SLC52A3 genes. These genes are involved in the transport of riboflavin (vitamin B2) into cells. Riboflavin is essential for certain cellular processes, including the production of energy.

Diagnosis

Diagnosis of BVVL syndrome is based on the clinical symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Genetic testing can confirm a diagnosis.

Treatment

There is currently no cure for BVVL syndrome. Treatment is symptomatic and supportive. Physical therapy, occupational therapy, and speech therapy may be beneficial. Some individuals may require assistive devices for mobility and communication.

Prognosis

The prognosis for individuals with BVVL syndrome varies. Some individuals have a relatively mild course with survival into adulthood while others may experience severe, life-threatening complications during childhood.

See also

• List of neurological conditions and disorders
• Genetic disorder
• Rare disease

External links

• GeneReviews – Brown-Vialetto-Van Laere Syndrome
• NORD – Brown-Vialetto-Van Laere Syndrome

Brown–Vialetto–Van Laere syndrome Resources
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