U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Axial dystonia

MedGen UID:
373027
Concept ID:
C1836149
Finding
Synonym: Truncal dystonia
 
HPO: HP:0002530

Definition

A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAxial dystonia

Conditions with this feature

Supranuclear palsy, progressive, 2
MedGen UID:
324446
Concept ID:
C1836148
Disease or Syndrome
Spinocerebellar ataxia type 12
MedGen UID:
347653
Concept ID:
C1858501
Disease or Syndrome
Rare disease with manifestations of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Prevalence is unknown. Approximately 40 families have been reported. The pathogenesis seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5'' end of the PPP2R2B gene on chromosome 5q31-5q32.
Autosomal recessive Parkinson disease 14
MedGen UID:
414488
Concept ID:
C2751842
Disease or Syndrome
Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.
Dystonia 23
MedGen UID:
761274
Concept ID:
C3538999
Disease or Syndrome
A rare genetic isolated dystonia with characteristics of adult-onset non-progressive focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.
Supranuclear palsy, progressive, 1
MedGen UID:
1640811
Concept ID:
C4551863
Disease or Syndrome
The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language. A recent retrospective study suggested that the majority of affected individuals have either behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease. Clinical presentation may differ between and within families with the same MAPT variant. MAPT-FTD is a progressive disorder that commonly ends with a relatively global dementia in which some affected individuals become mute. Progression of motor impairment in affected individuals results in some becoming chairbound and others bedbound. Mean disease duration is 9.3 (SD: 6.4) years but is individually variable and can be more than 30 years in some instances.
Mitochondrial complex 1 deficiency, nuclear type 8
MedGen UID:
1648411
Concept ID:
C4748766
Disease or Syndrome
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
MedGen UID:
1736667
Concept ID:
C5436628
Disease or Syndrome
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances, episodic respiratory failure, and nonspecific dysmorphic facial features. The intellectual impairment is variable, ranging from poor visual contact with inability to walk or speak to milder intellectual disability with the ability to say some words. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination (summary by Husain et al., 2020).
Dystonia 33
MedGen UID:
1794264
Concept ID:
C5562054
Disease or Syndrome
Dystonia-33 (DYT33) is a neurologic disorder characterized by onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence). The disorder is slowly progressive and may result in ambulation difficulties, dysarthria, or dysphagia. There is variable expressivity even with a family, as well as incomplete penetrance of the phenotype. Most mutations are in the heterozygous state, but a homozygous mutation with autosomal recessive inheritance has been reported, indicating variable patterns of transmission of DYT33. Some patients may have a more complex neurologic disorder with motor delay, lower limb spasticity, mild developmental delay with cognitive impairments, and nonspecific brain imaging abnormalities. There may be an exacerbation of the symptoms coinciding with viral infection or stress. Deep brain stimulation (DBS) may be therapeutic (summary by Kuipers et al., 2021).

Professional guidelines

PubMed

Gerrits MC, Foncke EM, de Haan R, Hedrich K, van de Leemput YL, Baas F, Ozelius LJ, Speelman JD, Klein C, Tijssen MA
Neurology 2006 Mar 14;66(5):759-61. doi: 10.1212/01.wnl.0000201192.66467.a3. PMID: 16534121
Klein C, Ozelius LJ
Curr Opin Neurol 2002 Aug;15(4):491-7. doi: 10.1097/00019052-200208000-00014. PMID: 12151848
Marsden CD, Marion MH, Quinn N
J Neurol Neurosurg Psychiatry 1984 Nov;47(11):1166-73. doi: 10.1136/jnnp.47.11.1166. PMID: 6502174Free PMC Article

Recent clinical studies

Etiology

Hull M, Parnes M, Jankovic J
Toxins (Basel) 2021 Feb 12;13(2) doi: 10.3390/toxins13020137. PMID: 33673369Free PMC Article
Stamelou M, Lai SC, Aggarwal A, Schneider SA, Houlden H, Yeh TH, Batla A, Lu CS, Bhatt M, Bhatia KP
Mov Disord 2013 Sep;28(10):1325-9. Epub 2013 Jun 4 doi: 10.1002/mds.25490. PMID: 23736975Free PMC Article
Bloch F, Houeto JL, Tezenas du Montcel S, Bonneville F, Etchepare F, Welter ML, Rivaud-Pechoux S, Hahn-Barma V, Maisonobe T, Behar C, Lazennec JY, Kurys E, Arnulf I, Bonnet AM, Agid Y
J Neurol Neurosurg Psychiatry 2006 Nov;77(11):1223-8. Epub 2006 Jun 5 doi: 10.1136/jnnp.2006.087908. PMID: 16754693Free PMC Article
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Bhatia KP, Quinn NP, Marsden CD
J Neurol Neurosurg Psychiatry 1997 Dec;63(6):788-91. doi: 10.1136/jnnp.63.6.788. PMID: 9416818Free PMC Article

Diagnosis

Hull M, Parnes M, Jankovic J
Toxins (Basel) 2021 Feb 12;13(2) doi: 10.3390/toxins13020137. PMID: 33673369Free PMC Article
Stamelou M, Lai SC, Aggarwal A, Schneider SA, Houlden H, Yeh TH, Batla A, Lu CS, Bhatt M, Bhatia KP
Mov Disord 2013 Sep;28(10):1325-9. Epub 2013 Jun 4 doi: 10.1002/mds.25490. PMID: 23736975Free PMC Article
Doherty KM, van de Warrenburg BP, Peralta MC, Silveira-Moriyama L, Azulay JP, Gershanik OS, Bloem BR
Lancet Neurol 2011 Jun;10(6):538-49. Epub 2011 Apr 22 doi: 10.1016/S1474-4422(11)70067-9. PMID: 21514890
Lenoir T, Guedj N, Boulu P, Guigui P, Benoist M
Eur Spine J 2010 Aug;19(8):1229-37. Epub 2010 Mar 19 doi: 10.1007/s00586-010-1370-5. PMID: 20300781Free PMC Article
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726

Therapy

Hull M, Parnes M, Jankovic J
Toxins (Basel) 2021 Feb 12;13(2) doi: 10.3390/toxins13020137. PMID: 33673369Free PMC Article
Voos MC, Oliveira Tde P, Piemonte ME, Barbosa ER
Physiother Theory Pract 2014 Jan;30(1):56-61. Epub 2013 Jul 12 doi: 10.3109/09593985.2013.799252. PMID: 23848574
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Bhatia KP, Quinn NP, Marsden CD
J Neurol Neurosurg Psychiatry 1997 Dec;63(6):788-91. doi: 10.1136/jnnp.63.6.788. PMID: 9416818Free PMC Article
Marsden CD, Marion MH, Quinn N
J Neurol Neurosurg Psychiatry 1984 Nov;47(11):1166-73. doi: 10.1136/jnnp.47.11.1166. PMID: 6502174Free PMC Article

Prognosis

Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T
Neurogenetics 2011 Feb;12(1):1-8. Epub 2010 Aug 24 doi: 10.1007/s10048-010-0255-4. PMID: 20734096
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Bhatia KP, Quinn NP, Marsden CD
J Neurol Neurosurg Psychiatry 1997 Dec;63(6):788-91. doi: 10.1136/jnnp.63.6.788. PMID: 9416818Free PMC Article
Barclay CL, Lang AE
J Neurol Neurosurg Psychiatry 1997 Apr;62(4):352-6. doi: 10.1136/jnnp.62.4.352. PMID: 9120447Free PMC Article
Jabbari B, Paul J, Scherokman B, Van Dam B
Mov Disord 1992;7(1):78-81. doi: 10.1002/mds.870070116. PMID: 1557070

Clinical prediction guides

Shaikh AG, Mewes K, Jinnah HA, DeLong MR, Gross RE, Triche S, Freeman A, Factor SA
Parkinsonism Relat Disord 2014 Nov;20(11):1279-82. Epub 2014 Sep 16 doi: 10.1016/j.parkreldis.2014.09.005. PMID: 25260969Free PMC Article
Stamelou M, Lai SC, Aggarwal A, Schneider SA, Houlden H, Yeh TH, Batla A, Lu CS, Bhatt M, Bhatia KP
Mov Disord 2013 Sep;28(10):1325-9. Epub 2013 Jun 4 doi: 10.1002/mds.25490. PMID: 23736975Free PMC Article
Bloch F, Houeto JL, Tezenas du Montcel S, Bonneville F, Etchepare F, Welter ML, Rivaud-Pechoux S, Hahn-Barma V, Maisonobe T, Behar C, Lazennec JY, Kurys E, Arnulf I, Bonnet AM, Agid Y
J Neurol Neurosurg Psychiatry 2006 Nov;77(11):1223-8. Epub 2006 Jun 5 doi: 10.1136/jnnp.2006.087908. PMID: 16754693Free PMC Article
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Vanek ZF, Jankovic J
Adv Neurol 2000;82:61-7. PMID: 10624471

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...