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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.
See: Feature record | Search on this feature
Generalized hyperreflexia
MedGen UID:
870502
•Concept ID:
C4024949
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Diaphragmatic weakness
MedGen UID:
101067
•Concept ID:
C0521532
•
Finding
A decrease in the strength of the diaphragm.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Progressive inspiratory stridor
MedGen UID:
870642
•Concept ID:
C4025096
•
Finding
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

The clinical practice guideline for the management of amyotrophic lateral sclerosis in Japan-update 2023.
Urushitani M, Warita H, Atsuta N, Izumi Y, Kano O, Shimizu T, Nakayama Y, Narita Y, Nodera H, Fujita T, Mizoguchi K, Morita M, Aoki M
Rinsho Shinkeigaku 2024 Apr 24;64(4):252-271. Epub 2024 Mar 23 doi: 10.5692/clinicalneurol.cn-001946. PMID: 38522911
Diagnosis and treatment of bulbar symptoms in amyotrophic lateral sclerosis.
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
Differential diagnostic patterns of dysarthria.
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

Fazio-Londe syndrome in siblings from India with different phenotypes.
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

Fazio-Londe syndrome in siblings from India with different phenotypes.
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

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