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Progressive bulbar palsy of childhood

MedGen UID:
41975
Concept ID:
C0015708
Disease or Syndrome
Synonyms: Bulbar hereditary motor neuronopathy (HMN) type II; Bulbar HMN II; Childhood Progressive Bulbar Palsy; Fazio Londe syndrome; Fazio-Londe disease; Progressive bulbar paralysis of childhood
SNOMED CT: Fazio-Londe syndrome (230246005)
 
Gene (location): SLC52A3 (20p13)
 
Monarch Initiative: MONDO:0100428
OMIM®: 211500
Orphanet: ORPHA56965

Definition

Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011). [from OMIM]

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Generalized hyperreflexia
MedGen UID:
870502
Concept ID:
C4024949
Finding
Bulbar palsy
MedGen UID:
898626
Concept ID:
C4082299
Disease or Syndrome
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
Diaphragmatic weakness
MedGen UID:
101067
Concept ID:
C0521532
Finding
A decrease in the strength of the diaphragm.
Facial diplegia
MedGen UID:
322796
Concept ID:
C1836003
Finding
Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
Progressive inspiratory stridor
MedGen UID:
870642
Concept ID:
C4025096
Finding
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Professional guidelines

PubMed

Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ
Orphanet J Rare Dis 2012 Oct 29;7:83. doi: 10.1186/1750-1172-7-83. PMID: 23107375Free PMC Article
Kühnlein P, Gdynia HJ, Sperfeld AD, Lindner-Pfleghar B, Ludolph AC, Prosiegel M, Riecker A
Nat Clin Pract Neurol 2008 Jul;4(7):366-74. Epub 2008 Jun 17 doi: 10.1038/ncpneuro0853. PMID: 18560390
Darley FL, Aronson AE, Brown JR
J Speech Hear Res 1969 Jun;12(2):246-69. doi: 10.1044/jshr.1202.246. PMID: 5808852

Recent clinical studies

Etiology

Gowda VK, Udhayabanu T, Varalakshmi P, Srinivasan VM, Ashokkumar B
Brain Dev 2018 Aug;40(7):582-586. Epub 2018 Mar 2 doi: 10.1016/j.braindev.2018.02.010. PMID: 29501408

Diagnosis

Gowda VK, Udhayabanu T, Varalakshmi P, Srinivasan VM, Ashokkumar B
Brain Dev 2018 Aug;40(7):582-586. Epub 2018 Mar 2 doi: 10.1016/j.braindev.2018.02.010. PMID: 29501408

Supplemental Content

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