Living with Riboflavin transporter deficiency
A rare inherited nerve condition that causes hearing loss, muscle weakness, and problems with breathing, speech, and swallowing.
Understanding Riboflavin transporter deficiency
It affects nerves in the inner ear and in the brainstem. This can cause hearing loss, breathing problems, slurred speech, and muscle weakness in the face, neck, shoulders, and limbs. Muscle stiffness and strong reflexes may also occur. It can start anywhere from infancy to young adulthood. GARD says signs worsen over time if not treated.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Progressive hearing loss
- Muscle weakness
- Trouble swallowing (dysphagia)
- Slurred speech (dysarthria)
- Breathing problems
- Drooping eyelid and facial weakness
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cure RTD Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in a gene and is autosomal recessive, so a child inherits a changed copy of the gene from each parent. GARD does not name a gene in this record.
Also known as: brown-vialetto-van laere syndrome; disorder of riboflavin transmembrane transporter activity; fazio-londe syndrome; pontobulbar palsy with deafness; progressive bulbar palsy with sensorineural deafness; riboflavin transmembrane transporter activity disease
Patient organizations
- Cure RTD FoundationRiboflavin transporter deficiency · United States
- Thisbe & NoahRiboflavin transporter deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Riboflavin transporter deficiency.
Explore research for Riboflavin transporter deficiency
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