MCID: SPR108
MIFTS: 29

Suprabulbar Paresis, Congenital

Categories: Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Suprabulbar Paresis, Congenital

MalaCards integrated aliases for Suprabulbar Paresis, Congenital:

Name: Suprabulbar Paresis, Congenital 57
Worster Drought Syndrome 53 29 6 72
Congenital Suprabulbar Paresis 53 59 37
Worster-Drought Syndrome 57 75 59
Suprabulbar Paresis Congenital 53

Characteristics:

Orphanet epidemiological data:

59
worster-drought syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
suprabulbar paresis, congenital:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 185480
KEGG 37 H01837
MESH via Orphanet 45 C536747
UMLS via Orphanet 73 C0796204
Orphanet 59 ORPHA3465
MedGen 42 C0796204
UMLS 72 C0796204

Summaries for Suprabulbar Paresis, Congenital

KEGG : 37
Congenital suprabulbar paresis (Worster- Drought syndrome) is a permanent movement disorder of the bulbar muscles causing persistent difficulties with swallowing, feeding, speech, and saliva control owing to a non-progressive disturbance in early brain development. Owing to the paresis of the orbicularis oris the patient is unable to round the lips or to blow, but as other facial muscles are not affected he can smile normally and close his eyes. An increased jaw jerk and a positive snout reflex are sometimes found, suggesting an upper motor neurone lesion. Congenital suprabulbar paresis has not yet been recognised in the literature as a genetic entity but occasional familial cases suggest that it may have a genetic basis.

MalaCards based summary : Suprabulbar Paresis, Congenital, also known as worster drought syndrome, is related to cerebral amyloid angiopathy, itm2b-related, 1 and pseudobulbar palsy. Affiliated tissues include tongue, brain and eye, and related phenotypes are neurological speech impairment and abnormal cranial nerve morphology

NIH Rare Diseases : 53 Worster-Drought syndrome (WDS) is a condition that affects the muscles of the mouth and throat; it is considered a type of cerebral palsy. The main symptoms of WDS include difficulties with drooling, swallowing and speaking. Some affected individuals may also have challenges with intelligence, behavior, or seizures. The cause of WDS is currently unknown, though it is believed that both genetic and environmental factors influence the development of this condition.

Wikipedia : 75 Worster-Drought syndrome is a form of congenital suprabulbar paresis that occurs in some children with... more...

More information from OMIM: 185480

Related Diseases for Suprabulbar Paresis, Congenital

Graphical network of the top 20 diseases related to Suprabulbar Paresis, Congenital:



Diseases related to Suprabulbar Paresis, Congenital

Symptoms & Phenotypes for Suprabulbar Paresis, Congenital

Human phenotypes related to Suprabulbar Paresis, Congenital:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
2 abnormal cranial nerve morphology 32 hallmark (90%) HP:0001291
3 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
4 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 tetraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002445
7 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
8 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
9 intellectual disability 32 HP:0001249
10 dysarthria 32 HP:0001260
11 muscle weakness 32 HP:0001324
12 eeg abnormality 32 HP:0002353
13 abnormality of the cranial nerves 59 Very frequent (99-80%)
14 drooling 32 HP:0002307

Symptoms via clinical synopsis from OMIM:

57
Neuro:
seizures
dysarthria
mental retardation
congenital suprabulbar paresis

Mouth:
drooling
tongue and soft palate weakness

Facies:
orbicularis oris muscle weakness

Head:
microcephaly

Lab:
abnormal eeg

Clinical features from OMIM:

185480

Drugs & Therapeutics for Suprabulbar Paresis, Congenital

Search Clinical Trials , NIH Clinical Center for Suprabulbar Paresis, Congenital

Genetic Tests for Suprabulbar Paresis, Congenital

Genetic tests related to Suprabulbar Paresis, Congenital:

# Genetic test Affiliating Genes
1 Worster Drought Syndrome 29

Anatomical Context for Suprabulbar Paresis, Congenital

MalaCards organs/tissues related to Suprabulbar Paresis, Congenital:

41
Tongue, Brain, Eye, Pituitary, Testes

Publications for Suprabulbar Paresis, Congenital

Articles related to Suprabulbar Paresis, Congenital:

(show all 28)
# Title Authors PMID Year
1
Familial and genetic associations in Worster-Drought syndrome and perisylvian disorders. 38 8
17994559 2008
2
A family with congenital suprabulbar paresis (Worster-Drought syndrome). 38 8
3955865 1986
3
Congenital suprabulbar paresis. 8
13357872 1956
4
Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness. 38
30813964 2019
5
Worster-Drought Syndrome Associated With LINS Mutations. 38
30090841 2018
6
Management of a soft tissue tumor in a child with Worster Drought syndrome using 810 nm diode laser - A case report. 38
26246691 2015
7
Intensive dysarthria therapy for younger children with cerebral palsy. 38
23441834 2013
8
Changes in voice quality after speech-language therapy intervention in older children with cerebral palsy. 38
24503934 2013
9
Postoperative cyanotic breath-holding spells in a child with Worster-Drought syndrome. 38
20890615 2010
10
Worster-Drought syndrome: poorly recognized despite severe and persistent difficulties with feeding and speech. 38
19824895 2010
11
11C-PiB PET ABri imaging in Worster-Drought syndrome (familial British dementia): a case report. 38
20110591 2010
12
Congenital perisylvian dysfunction - is it a spectrum? 38
19549204 2010
13
Worster-drought syndrome with ectopic neurohypophysis and pituitary hypoplasia. A case report. 38
24256897 2008
14
Anaesthesia for Worster-Drought syndrome. 38
18377667 2008
15
[Worster-Drought syndrome--a specific cerebral palsy syndrome--why is the diagnosis frequently overlooked?]. 38
17990388 2007
16
[Intermediary form of Foix-Chavany-Marie / Worster-Drought syndromes associated to involuntary movements: neuropsychological and phonoaudiological features]. 38
16791379 2006
17
Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report. 38
16759040 2006
18
Congenital suprabulbar palsy: a distinct clinical syndrome of heterogeneous aetiology. 38
15344522 2004
19
[Worster-Drought syndrome: case report and distinction in relation to Foix-Chavany-Marie syndrome]. 38
15476096 2004
20
Etiologic yield of cerebral palsy: a contemporary case series. 38
12878296 2003
21
The Worster-Drought syndrome and other syndromes of dementia with spastic paraparesis: the paradox of molecular pathology. 38
11305866 2001
22
Worster-Drought and congenital perisylvian syndromes-a continuum? 38
11275467 2001
23
Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Review of 47 cases. 38
11004132 2000
24
MRI in a patient with the Worster-Drought syndrome. 38
10929298 2000
25
Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome. 38
10698330 2000
26
The Worster-Drought syndrome: a severe test of paediatric neurodisability services? 38
9393896 1997
27
EPG treatment of a child with the Worster-Drought syndrome. 38
7492856 1995
28
Suprabulbar Paresis. Congenital suprabulbar paresis and its differential diagnosis, with special reference to acquired suprabulbar paresis. 38
4524910 1974

Variations for Suprabulbar Paresis, Congenital

ClinVar genetic disease variations for Suprabulbar Paresis, Congenital:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TMTC4 NM_032813.5(TMTC4): c.1192C> T (p.His398Tyr) single nucleotide variant Uncertain significance rs587779382 13:101288796-101288796 13:100636542-100636542

Expression for Suprabulbar Paresis, Congenital

Search GEO for disease gene expression data for Suprabulbar Paresis, Congenital.

Pathways for Suprabulbar Paresis, Congenital

GO Terms for Suprabulbar Paresis, Congenital

Sources for Suprabulbar Paresis, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....