progressive bulbar palsy
Findings
No curated finding names progressive bulbar palsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.
Definition from the Mondo Disease Ontology (MONDO:0008890), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC52A3HGNC:16187
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · LiferaOmics · Autosomal recessive · 2026
Where it sits
- Narrower terms (1)