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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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Your Question

Our 7 year old is having bulbar symptoms. Can you provide us with information about Fazio Londe syndrome?

Our Answer

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What is 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.[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

What are the signs and symptoms of Fazio Londe syndrome?

The symptoms of Fazio Londe syndrome typically appear between 1 and 12 years of age and may include:[2][3][4]

  • Facial weakness
  • Dysphagia (difficulty swallowing)
  • Stridor (a high-pitched respiratory sound often associated with acute blockage of the larynx)
  • Difficulty speaking (dysarthria)
  • Paralysis of the eye muscles
  • Dyspnea (difficulty breathing)
  • Frequent respiratory infections

The disorder may become generalized leading to paralysis, amyotrophy and abnormally sharp osteotendinous reflexes.[3][4] Median survival for patients with Fazio Londe syndrome is 18 months.[4] 

Last updated: 3/9/2010

What causes Fazio Londe syndrome?

Fazio Londe syndrome is caused by neuronal loss in the motor nuclei of the cranial nerves, situated at the level of the spinal bulb.[3]  
Last updated: 3/9/2010

How is Fazio Londe syndrome inherited?

There is evidence that there are at least three distinct subtypes of Fazio Londe syndrome: 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 protracted clinical course.[1]
Last updated: 3/9/2010

Is there treatment for Fazio Londe syndrome?

Treatment is symptomatic and supportive.[2] 
Last updated: 3/9/2010

References