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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
  • Progressive bulbar palsy of childhood
  • Progressive bulbar paralysis of childhood
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Overview

Fazio Londe syndrome is a rare, progressive neurological disorder characterized by bulbar palsy, muscle weakness, facial weakness, and difficulty breathing. Progressive bulbar palsy involves the brain stem, the part of the brain containing lower motor neurons needed for swallowing, speaking, chewing, and other functions. Symptoms of progressive bulbar palsy include swallowing difficulty, weak jaw and facial muscles, progressive loss of speech, and abnormal movements of the tongue. Weakness in the limbs and unsteady gait may also occur. The age of onset of Fazio Londe syndrome can vary, but symptoms typically start in infancy or childhood before 8-years of age. A few patients in their 20's have been reported. The disease is inherited in an autosomal recessive manner. 

In many patients with Fazio Londe syndrome, disease-causing mutations have been found in the genes SLC52A2 and SLC52A3. These genes provide instructions for making riboflavin transporter proteins (RFTs). RFTs play an important role in the absorption of riboflavin in the small intestine after we eat, such that the vitamin can be used in the body. High-dose oral supplementation with riboflavin has been shown to greatly improve symptoms in many patients. [1] [2] [3] [4] [5]
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.
  5. Motor Neuron Diseases Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). 05/15/2015; http://www.ninds.nih.gov/disorders/motor_neuron_diseases/detail_motor_neuron_diseases.htm. Accessed 6/17/2015.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fazio Londe syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Bulbar hereditary motor neuronopathy (HMN) type II
  • Bulbar HMN II
  • Fazio-Londe disease
  • Progressive bulbar palsy of childhood
  • Progressive bulbar paralysis of childhood
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.