Fazio Londe syndrome
Other Names for this Disease
- Bulbar hereditary motor neuronopathy (HMN) type II
- Bulbar HMN II
- Fazio-Londe disease
- Progressive bulbar paralysis of childhood
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High-dose oral supplementation with riboflavin has been shown to greatly improve symptoms in many patients. It is suggested that riboflavin treatment is started as early as possible in patients with this syndrome, before breathing and other neurological problems become permanent. While in some patients improvement has been observed within days, other patients (especially those more severely affected) have had a more gradual improvement over a period greater than one year. GeneReviews provides more detailed dosing suggestions and information on clinical and biochemical outcomes.    
Last updated: 6/17/2015
- Bosch AM, Abeling NG, Ijlst L et al. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011 Feb; 34(1):159-64. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026695/. Accessed 6/17/2015.
- Bosch AM, Stroek K, Abeling NG et al. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis. 2012 Oct 29; 7:83:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517535/. Accessed 6/17/2015.
- Manole A, Fratta P, Houlden H. Recent advances in bulbar syndromes: genetic causes and disease mechanisms.. Curr Opin Neurol. 2014 Oct; 27(5):506-14. http://www.ncbi.nlm.nih.gov/pubmed/25159929. Accessed 6/17/2015.
- Manole A and H Houlden. Riboflavin Transporter Deficiency Neuronopathy. GeneReviews. 06/11/2015; http://www.ncbi.nlm.nih.gov/books/NBK299312/. Accessed 6/17/2015.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.