disease 816 words KG: ent-dise-3772ef23 2026-03-21
kind:diseasesection:diseasesstate:published
Contents

Progressive Bulbar Palsy (PBP)

Disease Info
PrevalenceApproximately 1-2 per 100,000 individuals annually[@chio2013]
Age of onsetTypically 50-70 years[@logroscino2010]
GenderSlight male predominance (1.3-1.5:1)[@manera2020]
Motor neuron degenerationLoss of motor neurons in the brainstem nuclei (hypoglossal nucleus, nucleus ambiguus, facial nucleus)
Bunina bodiesSmall intraneuronal inclusions characteristic of ALS
Corticospinal tract involvementOften associated with upper motor neuron signs
SOD1 mutationsAccount for 15-20% of familial ALS cases
FUS mutationsAssociated with aggressive bulbar-onset disease
TARDBP mutationsTDP-43 gene mutations
DysarthriaProgressive slurred speech, initially affecting consonants, then vowels
DysphagiaDifficulty swallowing, initially for solids, then liquids
DysphoniaHoarse, nasal, or weak voice
DatabasesOMIMOrphanetClinicalTrialsPubMed

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