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Head titubation

MedGen UID:
299071
Concept ID:
C1608410
Sign or Symptom
Synonym: Titubation of head
 
HPO: HP:0002599

Definition

A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHead titubation

Conditions with this feature

Pelizaeus-Merzbacher disease
MedGen UID:
61440
Concept ID:
C0205711
Disease or Syndrome
PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.
Beta-hydroxyisobutyryl-CoA deacylase deficiency
MedGen UID:
83349
Concept ID:
C0342738
Disease or Syndrome
3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Ferdinandusse et al., 2013).
Hypomyelinating leukodystrophy 2
MedGen UID:
325157
Concept ID:
C1837355
Disease or Syndrome
Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early-infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay, and dysarthria. Over time the hypotonia typically evolves into spasticity that affects the ability to walk and communicate. Cerebellar signs (gait ataxia, dysmetria, intention tremor, head titubation, and dysdiadochokinesia) frequently manifest during childhood. Some individuals develop extrapyramidal movement abnormalities (choreoathetosis and dystonia). Hearing loss and optic atrophy are observed in rare cases. Motor impairments can lead to swallowing difficulty and orthopedic complications, including hip dislocation and scoliosis. Most individuals have normal cognitive skills or mild intellectual disability – which, however, can be difficult to evaluate in the context of profound motor impairment.
Amyotrophic lateral sclerosis type 2, juvenile
MedGen UID:
349246
Concept ID:
C1859807
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.
Spastic ataxia 2
MedGen UID:
370750
Concept ID:
C1969796
Disease or Syndrome
Autosomal recessive spastic ataxia-2 (SPAX2) is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected (summary by Dor et al., 2014). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).
Hypomyelinating leukodystrophy 4
MedGen UID:
383026
Concept ID:
C2677109
Disease or Syndrome
Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.
Pontine tegmental cap dysplasia
MedGen UID:
762040
Concept ID:
C3541340
Disease or Syndrome
Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, whereas there is vaulting ('capping') of the dorsal pontine border into the fourth ventricle. Affected individuals show a variety of neurologic deficits, most commonly sensorineural deafness, impaired cranial nerve function, and variable psychomotor retardation (summary by Barth et al., 2007).
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
MedGen UID:
815995
Concept ID:
C3809665
Disease or Syndrome
Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
MedGen UID:
1382553
Concept ID:
C4479653
Disease or Syndrome
NKX6-2-related disorder is characterized by a spectrum of progressive neurologic manifestations resulting from diffuse central nervous system hypomyelination. At the severe end of the spectrum is neonatal-onset nystagmus, severe spastic tetraplegia with joint contractures and scoliosis, and visual and hearing impairment, all of which rapidly progress resulting in death in early childhood. At the milder end of the spectrum is normal achievement of early motor milestones in the first year of life followed by slowly progressive complex spastic ataxia with pyramidal findings (spasticity with increased muscle tone and difficulty with gait and fine motor coordination) and cerebellar findings (nystagmus, extraocular movement disorder, dysarthria, titubation, and ataxia) with loss of developmental milestones. To date NKX6-2-related disorder has been reported in 25 individuals from 13 families.
Leukodystrophy, hypomyelinating, 19, transient infantile
MedGen UID:
1684698
Concept ID:
C5231463
Disease or Syndrome
Transient infantile hypomyelinating leukodystrophy-19 (HLD19) is a disorder characterized by onset of transient neurologic abnormalities in early infancy, with resolution within the first or second decades. Affected individuals typically present in the newborn period or in early infancy with nystagmus and motor deficits associated with marked hypomyelination on brain imaging. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. Most patients have normal cognition and can attend regular schools, although some may have persistent neurologic deficits, such as gait ataxia, speech pronunciation defects, and/or mild cognitive impairment (summary by Yan et al., 2019). For a discussion of genetic heterogeneity of HLD, see 312080.
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
MedGen UID:
1719567
Concept ID:
C5394367
Disease or Syndrome
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) is characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive (summary by Mao et al., 2020).
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).
Trichothiodystrophy 8, nonphotosensitive
MedGen UID:
1794267
Concept ID:
C5562057
Disease or Syndrome
Nonphotosensitive trichothiodystrophy-8 (TTD8) is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Hair analysis shows low sulfur content, and skin fibroblasts demonstrate normal DNA repair efficiency after UV irradiation (Botta et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675).
Gastrointestinal defects and immunodeficiency syndrome 2
MedGen UID:
1811526
Concept ID:
C5676901
Disease or Syndrome
PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.
Spinocerebellar ataxia, autosomal recessive 33
MedGen UID:
1824070
Concept ID:
C5774297
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-33 (SCAR33) is a neurologic disorder characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria. Some patients have seizures and/or learning difficulties. Brain imaging shows cerebellar hypoplasia (Elsaid et al., 2017).

Recent clinical studies

Etiology

Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ
Gene 2014 Aug 10;546(2):425-9. Epub 2014 Jun 7 doi: 10.1016/j.gene.2014.06.011. PMID: 24914498
Poretti A, Christen HJ, Elton LE, Baumgartner M, Korenke GC, Sukhudyan B, Hethey S, Cross E, Steinlin M, Boltshauser E
Dev Med Child Neurol 2014 Oct;56(10):1016-20. Epub 2014 May 10 doi: 10.1111/dmcn.12489. PMID: 24814865
Plaha P, Patel NK, Gill SS
J Neurosurg 2004 Jul;101(1):48-54. doi: 10.3171/jns.2004.101.1.0048. PMID: 15255251
Benomar A, Yahyaoui M, Meggouh F, Bouhouche A, Boutchich M, Bouslam N, Zaim A, Schmitt M, Belaidi H, Ouazzani R, Chkili T, Koenig M
J Neurol Sci 2002 Jun 15;198(1-2):25-9. doi: 10.1016/s0022-510x(02)00057-6. PMID: 12039660
Magee LA, Downar E, Sermer M, Boulton BC, Allen LC, Koren G
Am J Obstet Gynecol 1995 Apr;172(4 Pt 1):1307-11. doi: 10.1016/0002-9378(95)91498-6. PMID: 7726275

Diagnosis

Green K, MacIver CL, Ebden S, Rees DA, Peall KJ
Neurology 2024 Apr 23;102(8):e209296. Epub 2024 Mar 20 doi: 10.1212/WNL.0000000000209296. PMID: 38507676Free PMC Article
Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF
Mol Genet Genomic Med 2020 Mar;8(3):e1078. Epub 2020 Jan 17 doi: 10.1002/mgg3.1078. PMID: 31951325Free PMC Article
Masson R, Piretti E, Pellegrin S, Gusson E, Poretti A, Valente EM, Cantalupo G
Neurology 2017 Apr 11;88(15):1478-1479. Epub 2017 Mar 10 doi: 10.1212/WNL.0000000000003823. PMID: 28283601
Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ
Gene 2014 Aug 10;546(2):425-9. Epub 2014 Jun 7 doi: 10.1016/j.gene.2014.06.011. PMID: 24914498
Proudlock FA, Gottlob I, Constantinescu CS
J Neuroophthalmol 2002 Jun;22(2):88-91. doi: 10.1097/00041327-200206000-00004. PMID: 12131465

Therapy

Plaha P, Patel NK, Gill SS
J Neurosurg 2004 Jul;101(1):48-54. doi: 10.3171/jns.2004.101.1.0048. PMID: 15255251
Magee LA, Downar E, Sermer M, Boulton BC, Allen LC, Koren G
Am J Obstet Gynecol 1995 Apr;172(4 Pt 1):1307-11. doi: 10.1016/0002-9378(95)91498-6. PMID: 7726275
Koeppen AH, Hans MB
Neurology 1976 Aug;26(8):764-8. doi: 10.1212/wnl.26.8.764. PMID: 945871

Prognosis

Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF
Mol Genet Genomic Med 2020 Mar;8(3):e1078. Epub 2020 Jan 17 doi: 10.1002/mgg3.1078. PMID: 31951325Free PMC Article
Plaha P, Patel NK, Gill SS
J Neurosurg 2004 Jul;101(1):48-54. doi: 10.3171/jns.2004.101.1.0048. PMID: 15255251

Clinical prediction guides

Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF
Mol Genet Genomic Med 2020 Mar;8(3):e1078. Epub 2020 Jan 17 doi: 10.1002/mgg3.1078. PMID: 31951325Free PMC Article
Plaha P, Patel NK, Gill SS
J Neurosurg 2004 Jul;101(1):48-54. doi: 10.3171/jns.2004.101.1.0048. PMID: 15255251
Magee LA, Downar E, Sermer M, Boulton BC, Allen LC, Koren G
Am J Obstet Gynecol 1995 Apr;172(4 Pt 1):1307-11. doi: 10.1016/0002-9378(95)91498-6. PMID: 7726275

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