U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Pseudobulbar paralysis

MedGen UID:
10989
Concept ID:
C0033790
Disease or Syndrome
Synonym: Pseudobulbar palsy
SNOMED CT: Pseudobulbar palsy (7379000)
 
HPO: HP:0007024
Monarch Initiative: MONDO:0006930

Definition

Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPseudobulbar paralysis

Conditions with this feature

Cholestanol storage disease
MedGen UID:
116041
Concept ID:
C0238052
Disease or Syndrome
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy and/or neonatal cholestasis may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the third decade in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.
Congenital bilateral perisylvian syndrome
MedGen UID:
337000
Concept ID:
C1845668
Disease or Syndrome
Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993). PMG may be a feature of other conditions as well (see, e.g., 300643).
Juvenile primary lateral sclerosis
MedGen UID:
342870
Concept ID:
C1853396
Disease or Syndrome
ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.
Amyotrophic lateral sclerosis type 1
MedGen UID:
400169
Concept ID:
C1862939
Disease or Syndrome
Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial (Siddique and Deng, 1996). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. Rowland and Shneider (2001) and Kunst (2004) provided extensive reviews of ALS. Some forms of ALS occur with frontotemporal dementia (FTD); see 105500. Ranganathan et al. (2020) provided a detailed review of the genes involved in different forms of ALS with FTD, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration. Familial ALS is distinct from a form of ALS with dementia reported in cases on Guam (105500) (Espinosa et al., 1962; Husquinet and Franck, 1980), in which the histology is different and dementia and parkinsonism complicate the clinical picture. Genetic Heterogeneity of Amyotrophic Lateral Sclerosis ALS is a genetically heterogeneous disorder, with several causative genes and mapped loci. ALS6 (608030) is caused by mutation in the FUS gene (137070) on chromosome 16p11; ALS8 (608627) is caused by mutation in the VAPB gene (605704) on chromosome 13; ALS9 (611895) is caused by mutation in the ANG gene (105850) on chromosome 14q11; ALS10 (612069) is caused by mutation in the TARDBP gene (605078) on 1p36; ALS11 (612577) is caused by mutation in the FIG4 gene (609390) on chromosome 6q21; ALS12 (613435) is caused by mutation in the OPTN gene (602432) on chromosome 10p13; ALS15 (300857) is caused by mutation in the UBQLN2 gene (300264) on chromosome Xp11; ALS18 (614808) is caused by mutation in the PFN1 gene (176610) on chromosome 17p13; ALS19 (615515) is caused by mutation in the ERBB4 gene (600543) on chromosome 2q34; ALS20 (615426) is caused by mutation in the HNRNPA1 gene (164017) on chromosome 12q13; ALS21 (606070) is caused by mutation in the MATR3 gene (164015) on chromosome 5q31; ALS22 (616208) is caused by mutation in the TUBA4A gene (191110) on chromosome 2q35; ALS23 (617839) is caused by mutation in the ANXA11 gene (602572) on chromosome 10q23; ALS26 (619133) is caused by mutation in the TIA1 gene (603518) on chromosome 2p13; ALS27 (620285) is caused by mutation in the SPTLC1 gene (605712) on chromosome 9q22; and ALS28 (620452) is caused by mutation in the LRP12 gene (618299) on chromosome 8q22. Loci associated with ALS have been found on chromosomes 18q21 (ALS3; 606640) and 20p13 (ALS7; 608031). Intermediate-length polyglutamine repeat expansions in the ATXN2 gene (601517) contribute to susceptibility to ALS (ALS13; 183090). Susceptibility to ALS24 (617892) is conferred by mutation in the NEK1 gene (604588) on chromosome 4q33, and susceptibility to ALS25 (617921) is conferred by mutation in the KIF5A gene (602821) on chromosome 12q13. Susceptibility to ALS has been associated with mutations in other genes, including deletions or insertions in the gene encoding the heavy neurofilament subunit (NEFH; 162230); deletions in the gene encoding peripherin (PRPH; 170710); and mutations in the dynactin gene (DCTN1; 601143). Some forms of ALS show juvenile onset. See juvenile-onset ALS2 (205100), caused by mutation in the alsin (606352) gene on 2q33; ALS4 (602433), caused by mutation in the senataxin gene (SETX; 608465) on 9q34; ALS5 (602099), caused by mutation in the SPG11 gene (610844) on 15q21; and ALS16 (614373), caused by mutation in the SIGMAR1 gene (601978) on 9p13.
Adult-onset autosomal dominant demyelinating leukodystrophy
MedGen UID:
356995
Concept ID:
C1868512
Disease or Syndrome
LMNB1-related autosomal dominant leukodystrophy (ADLD) is a slowly progressive disorder of central nervous system white matter characterized by onset of autonomic dysfunction in the fourth to fifth decade, followed by pyramidal and cerebellar abnormalities resulting in spasticity, ataxia, and tremor. Autonomic dysfunction can include bladder dysfunction, constipation, postural hypotension, erectile dysfunction, and (less often) impaired sweating. Pyramidal signs are often more prominent in the lower extremities (e.g., spastic weakness, hypertonia, clonus, brisk deep tendon reflexes, and bilateral Babinski signs). Cerebellar signs typically appear at the same time as the pyramidal signs and include gait ataxia, dysdiadochokinesia, intention tremor, dysmetria, and nystagmus. Many individuals have sensory deficits starting in the lower limbs. Pseudobulbar palsy with dysarthria, dysphagia, and forced crying and laughing may appear in the seventh or eighth decade. Although cognitive function is usually preserved or only mildly impaired early in the disease course, dementia and psychiatric manifestations can occur as late manifestations. Affected individuals may survive for decades after onset.
Spinocerebellar ataxia type 35
MedGen UID:
854733
Concept ID:
C3888031
Disease or Syndrome
Spinocerebellar ataxia-35 (SCA35) is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Hypomyelinating leukodystrophy 9
MedGen UID:
863760
Concept ID:
C4015323
Disease or Syndrome
Hypomyelinating leukodystrophy-9 (HLD9) is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
Congenital disorder of glycosylation, type IAA
MedGen UID:
934694
Concept ID:
C4310727
Disease or Syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
MedGen UID:
1634330
Concept ID:
C4551768
Disease or Syndrome
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
MedGen UID:
1684884
Concept ID:
C5231442
Disease or Syndrome
Halperin-Birk syndrome (HLBKS) is an autosomal recessive neurodevelopmental disorder characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy. Death occurs in early childhood (Halperin et al., 2019).
Autosomal recessive complex spastic paraplegia type 9B
MedGen UID:
1800403
Concept ID:
C5568980
Disease or Syndrome
Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).
Developmental malformations-deafness-dystonia syndrome
MedGen UID:
1848671
Concept ID:
C5848323
Disease or Syndrome
Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.

Professional guidelines

PubMed

Wang P, Ma X, Huang J, Li J, Ma L, Xu D, Yan P
Ann Palliat Med 2022 Jul;11(7):2257-2264. Epub 2022 Mar 28 doi: 10.21037/apm-21-3551. PMID: 35400158

Recent clinical studies

Etiology

Wang P, Ma X, Huang J, Li J, Ma L, Xu D, Yan P
Ann Palliat Med 2022 Jul;11(7):2257-2264. Epub 2022 Mar 28 doi: 10.21037/apm-21-3551. PMID: 35400158
Lv X, Hong Q, Lin X, Chen W, Tian Y
Biomed Res Int 2021;2021:9944632. Epub 2021 May 28 doi: 10.1155/2021/9944632. PMID: 34136577Free PMC Article
Arba F, Inzitari D, Lippi D
Neurol Sci 2014 Jul;35(7):1133-7. Epub 2014 Mar 7 doi: 10.1007/s10072-014-1694-8. PMID: 24604411

Diagnosis

Lv X, Hong Q, Lin X, Chen W, Tian Y
Biomed Res Int 2021;2021:9944632. Epub 2021 May 28 doi: 10.1155/2021/9944632. PMID: 34136577Free PMC Article
Sari US, Kisabay A, Batum M, Tarhan S, Dogan N, Coskunoglu A, Cam S, Yilmaz H, Selcuki D
J Mol Neurosci 2019 Aug;68(4):529-538. Epub 2019 Apr 16 doi: 10.1007/s12031-019-01313-z. PMID: 30993645
Kaps M, Klostermann W, Wessel K, Brückmann H
Acta Neurol Scand 1997 Nov;96(5):324-7. doi: 10.1111/j.1600-0404.1997.tb00291.x. PMID: 9405003
Hori A, Hirose G, Kataoka S, Tsukada K, Furui K, Tonami H
Arch Neurol 1991 Aug;48(8):871-4. doi: 10.1001/archneur.1991.00530200113030. PMID: 1898266
Pender DJ
Laryngoscope 1984 Nov;94(11 Pt 1):1497-500. PMID: 6092805

Therapy

Wang P, Ma X, Huang J, Li J, Ma L, Xu D, Yan P
Ann Palliat Med 2022 Jul;11(7):2257-2264. Epub 2022 Mar 28 doi: 10.21037/apm-21-3551. PMID: 35400158
Liu Y
J Tradit Chin Med 2004 Mar;24(1):26-7. PMID: 15119166
Pirzada NA, Ali II
Mayo Clin Proc 2001 May;76(5):559-62. doi: 10.4065/76.5.559. PMID: 11357804
Wang C, Du S, Li H, Ding Z
J Tradit Chin Med 1998 Jun;18(2):96-8. PMID: 10437223
Pender DJ
Laryngoscope 1984 Nov;94(11 Pt 1):1497-500. PMID: 6092805

Prognosis

Lv X, Hong Q, Lin X, Chen W, Tian Y
Biomed Res Int 2021;2021:9944632. Epub 2021 May 28 doi: 10.1155/2021/9944632. PMID: 34136577Free PMC Article
Sari US, Kisabay A, Batum M, Tarhan S, Dogan N, Coskunoglu A, Cam S, Yilmaz H, Selcuki D
J Mol Neurosci 2019 Aug;68(4):529-538. Epub 2019 Apr 16 doi: 10.1007/s12031-019-01313-z. PMID: 30993645
Arba F, Inzitari D, Lippi D
Neurol Sci 2014 Jul;35(7):1133-7. Epub 2014 Mar 7 doi: 10.1007/s10072-014-1694-8. PMID: 24604411
Kaps M, Klostermann W, Wessel K, Brückmann H
Acta Neurol Scand 1997 Nov;96(5):324-7. doi: 10.1111/j.1600-0404.1997.tb00291.x. PMID: 9405003
Sandyk R
S Afr Med J 1983 Apr 9;63(15):578-9. PMID: 6845051

Clinical prediction guides

Du L
J Tradit Chin Med 2001 Mar;21(1):12-5. PMID: 11360528
Kaps M, Klostermann W, Wessel K, Brückmann H
Acta Neurol Scand 1997 Nov;96(5):324-7. doi: 10.1111/j.1600-0404.1997.tb00291.x. PMID: 9405003
Markand ON, Dyken ML
Neurology 1976 Aug;26(8):769-76. doi: 10.1212/wnl.26.8.769. PMID: 945872

Recent systematic reviews

Wang P, Ma X, Huang J, Li J, Ma L, Xu D, Yan P
Ann Palliat Med 2022 Jul;11(7):2257-2264. Epub 2022 Mar 28 doi: 10.21037/apm-21-3551. PMID: 35400158

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...