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Progressive bulbar paralysis of childhood

Orpha number ORPHA56965
Synonym(s) Fazio-Londe disease
Progressive bulbar palsy of childhood
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10 -
OMIM
UMLS
  • C0015708
  • C0393540
MeSH
  • D010244
MedDRA -
SNOMED CT
  • 230246005

Summary

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.


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