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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
  • Progressive bulbar paralysis of childhood
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Overview

Fazio Londe syndrome, also known as progressive bulbar paralysis (or palsy) of childhood, is an inherited motor neuron disease found in children.[1] This condition is characterized by facial weakness, dysphagia, stridor, dysarthria, and paralysis of the eye muscles.[2] There is evidence that there are at least three distinct subtypes: a very rare autosomal dominant form and two variants with probable autosomal recessive inheritance either with early onset of respiratory symptoms and rapid progression to death or later onset, less prominent respiratory symptoms and lengthy clinical course.[1]
Last updated: 3/9/2010

References

  1. McShane MA, Boyd S, Harding B, Brett EM, Wilson J. Brain. 1992; http://www.ncbi.nlm.nih.gov/pubmed/1486466. Accessed 3/9/2010.
  2. Motor Neuron Diseases Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). 2010; http://www.ninds.nih.gov/disorders/motor_neuron_diseases/detail_motor_neuron_diseases.htm. Accessed 3/9/2010.
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1 question(s) from the public on Fazio Londe syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Families of SMA has created a booklet entitled Understanding SMA that is intended to serve as a source of information and support for children and adults with Spinal Muscular Atrophy (SMA). 
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 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.