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Worster-Drought syndrome

MedGen UID:
163228
Concept ID:
C0796204
Disease or Syndrome
Synonym: Suprabulbar paresis congenital
SNOMED CT: Congenital suprabulbar paresis (716335003); Worster Drought syndrome (716335003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0008503
OMIM®: 185480
Orphanet: ORPHA3465

Definition

A form of cerebral palsy with characteristics of congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Mean age at diagnosis is 6 years. The main clinical features are spasticity and limited movements around the mouth and throat from an early age, and brisk jaw jerks. Most cases are sporadic but several families with more than one affected member have been reported. Inheritance in these families appeared to follow an autosomal dominant pattern with variable expression and penetrance. [from SNOMEDCT_US]

Clinical features

From HPO
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Habitual flow of saliva out of the mouth.

Recent clinical studies

Etiology

Miller N, Pennington L, Robson S, Roelant E, Steen N, Lombardo E
Folia Phoniatr Logop 2013;65(4):200-7. Epub 2014 Feb 1 doi: 10.1159/000355864. PMID: 24503934
Pennington L, Roelant E, Thompson V, Robson S, Steen N, Miller N
Dev Med Child Neurol 2013 May;55(5):464-71. Epub 2013 Feb 26 doi: 10.1111/dmcn.12098. PMID: 23441834
Clark M, Chong WK, Cox T, Neville BG
Dev Med Child Neurol 2010 Jan;52(1):33-9. Epub 2009 Jun 22 doi: 10.1111/j.1469-8749.2009.03348.x. PMID: 19549204
Suresh PA, Deepa C
Dev Med Child Neurol 2004 Sep;46(9):617-25. doi: 10.1017/s0012162204001045. PMID: 15344522
Clark M, Carr L, Reilly S, Neville BG
Brain 2000 Oct;123 ( Pt 10):2160-70. doi: 10.1093/brain/123.10.2160. PMID: 11004132

Diagnosis

Clark M, Harris R, Jolleff N, Price K, Neville BG
Dev Med Child Neurol 2010 Jan;52(1):27-32. Epub 2009 Oct 12 doi: 10.1111/j.1469-8749.2009.03475.x. PMID: 19824895
Clark M, Neville BG
Am J Med Genet A 2008 Jan 1;146A(1):35-42. doi: 10.1002/ajmg.a.32015. PMID: 17994559
Baş F, Darendeliler F, Yapici Z, Gökalp S, Bundak R, Saka N, Günöz H
J Pediatr Endocrinol Metab 2006 Apr;19(4):535-40. PMID: 16759040
Clark M, Carr L, Reilly S, Neville BG
Brain 2000 Oct;123 ( Pt 10):2160-70. doi: 10.1093/brain/123.10.2160. PMID: 11004132
Arbelaez A, Castillo M, Tennison M
Neuroradiology 2000 Jun;42(6):403-5. doi: 10.1007/s002340000297. PMID: 10929298

Prognosis

Pennington L, Roelant E, Thompson V, Robson S, Steen N, Miller N
Dev Med Child Neurol 2013 May;55(5):464-71. Epub 2013 Feb 26 doi: 10.1111/dmcn.12098. PMID: 23441834
Clark M, Harris R, Jolleff N, Price K, Neville BG
Dev Med Child Neurol 2010 Jan;52(1):27-32. Epub 2009 Oct 12 doi: 10.1111/j.1469-8749.2009.03475.x. PMID: 19824895
Clark M, Chong WK, Cox T, Neville BG
Dev Med Child Neurol 2010 Jan;52(1):33-9. Epub 2009 Jun 22 doi: 10.1111/j.1469-8749.2009.03348.x. PMID: 19549204
Shevell MI, Majnemer A, Morin I
Pediatr Neurol 2003 May;28(5):352-9. doi: 10.1016/s0887-8994(03)00006-7. PMID: 12878296
Clark M, Carr L, Reilly S, Neville BG
Brain 2000 Oct;123 ( Pt 10):2160-70. doi: 10.1093/brain/123.10.2160. PMID: 11004132

Clinical prediction guides

Pennington L, Roelant E, Thompson V, Robson S, Steen N, Miller N
Dev Med Child Neurol 2013 May;55(5):464-71. Epub 2013 Feb 26 doi: 10.1111/dmcn.12098. PMID: 23441834
Villemagne VL, Pike K, Pejoska S, Boyd A, Power M, Jones G, Masters CL, Rowe CC
J Alzheimers Dis 2010;19(2):423-8. doi: 10.3233/JAD-2010-1241. PMID: 20110591
Clark M, Chong WK, Cox T, Neville BG
Dev Med Child Neurol 2010 Jan;52(1):33-9. Epub 2009 Jun 22 doi: 10.1111/j.1469-8749.2009.03348.x. PMID: 19549204
Shevell MI, Majnemer A, Morin I
Pediatr Neurol 2003 May;28(5):352-9. doi: 10.1016/s0887-8994(03)00006-7. PMID: 12878296
Clark M, Carr L, Reilly S, Neville BG
Brain 2000 Oct;123 ( Pt 10):2160-70. doi: 10.1093/brain/123.10.2160. PMID: 11004132

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