Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:1528
Name:Bulbar Palsy, Progressive
Definition:A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)
Alternative IDs:OMIM:211500
ParentIDs:MESH:D016472
TreeNumbers:C10.574.562.300 |C10.668.467.300
Synonyms:Bulbar Palsies |Bulbar Palsies, Progressive |Bulbar Palsy |Bulbar Palsy, Progressive, Of Childhood |Bulbar Paralyses |Bulbar Paralysis |Childhood Progressive Bulbar Palsy |Fazio-Londe Disease |Fazio Londe Syndrome |Fazio-Londe Syndrome |Palsies, Bulbar |Palsies, Pr
Slim Mappings:Nervous system disease
Reference: MedGen: D010244
MeSH: D010244
OMIM: 211500;

Genes: SLC52A3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001283Bulbar palsy
3 HP:0009113Diaphragmatic weakness
4 HP:0002015Dysphagia
5 HP:0001349Facial diplegia
6 HP:0007034Generalized hyperreflexia
7 HP:0005951Progressive inspiratory stridor
8 HP:0000508Ptosis
Disease Causing ClinVar Variants