Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Progressive bulbar paralysis of childhood

Orpha number ORPHA56965
Synonym(s) Fazio-Londe disease
Progressive bulbar palsy of childhood
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
  • C0015708
  • C0393540
  • D010244
MedDRA -
  • 230246005


Progressive bulbar paralysis of childhood is characterised progressive bilateral facial paralysis together with various other manifestations: ptosis, dysphagia, dysarythmia, dyspnea and frequent respiratory infections. The disorder may become generalised leading to paralysis, amyotrophy and abnormally sharp osteotendinous reflexes. The disease course is severe in cases of respiratory insufficiency. The syndrome is caused by neuronal loss in the motor nuclei of the cranial nerves, situated at the level of the spinal bulb. Degeneration of the anterior horn cells of the spinal cord has also been reported. The syndrome is rare with less than 40 cases reported so far. The mode of transmission is autosomal recessive.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.