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Genetic and Rare Diseases Information Center (GARD)

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Fazio Londe syndrome


Other Names for this Disease
  • Bulbar hereditary motor neuronopathy (HMN) type II
  • Bulbar HMN II
  • Fazio-Londe disease
  • Prion disease
  • Progressive bulbar palsy of childhood
Related Diseases
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Treatment

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How might Fazio Londe syndrome be treated?

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. [1] [2] [3] [4]
Last updated: 6/17/2015

References
  1. 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.
  2. 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.
  3. 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.
  4. 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.


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Management Guidelines

  • 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.
Other Names for this Disease
  • Bulbar hereditary motor neuronopathy (HMN) type II
  • Bulbar HMN II
  • Fazio-Londe disease
  • Prion disease
  • Progressive bulbar palsy of childhood
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.