Brown–Vialetto–Van Laere syndrome

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Brown–Vialetto–Van Laere syndrome
File:Autosomal recessive - en.svg
Synonyms	BVVL, Riboflavin transporter deficiency
Pronounce
Specialty	Neurology, Genetics
Symptoms	Sensorineural hearing loss, bulbar palsy, muscle weakness
Complications	N/A
Onset	Childhood or early adulthood
Duration	Chronic
Types	N/A
Causes	Mutations in SLC52A2 or SLC52A3 genes
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Amyotrophic lateral sclerosis, Fazio-Londe disease
Prevention	N/A
Treatment	Riboflavin supplementation
Medication	Riboflavin
Prognosis	Variable, can be life-threatening
Frequency	Rare
Deaths

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