Fazio Londe Syndrome

Common Name(s)

Fazio Londe Syndrome

Fazio Londe syndrome, also known as progressive bulbar paralysis (or palsy) of childhood, is an inherited motor neuron disease found in children. This condition is characterized by facial weakness, dysphagia, stridor, dysarthria, and paralysis of the eye muscles. 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.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fazio Londe Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fazio Londe Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

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.
 

Author(s): Annet M Bosch, Nico G G M Abeling, Lodewijk Ijlst, Hennie Knoester, W Ludo van der Pol, Alida E M Stroomer, Ronald J Wanders, Gepke Visser, Frits A Wijburg, Marinus Duran, Hans R Waterham

Journal: J. Inherit. Metab. Dis.. 2011 Feb;34(1):159-64.

 

We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild form of the multiple acyl-CoA ...

Last Updated: 25 Jan 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fazio Londe Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
 

Author(s): Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk Ijlst, Ronald J A Wanders

Journal:

 

The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients ...

Last Updated: 11 Dec 2012

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.