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The Diagnosis Of Dystonia

Howard L. Geyer, S. Bressman
Published 2006 · Medicine

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Dystonia is a movement disorder with many presentations and diverse causes. A systematic approach to dystonia helps to ensure that patients with this disorder receive optimum care. This Review begins with a summary of the clinical features of dystonia, followed by a discussion of other disorders to be considered and excluded before assigning the diagnosis of dystonia. Next, we emphasise the importance of classifying dystonia along several dimensions, and we explain how doing so aids in narrowing the differential diagnosis. The more common forms of dystonia are discussed in detail. Finally, we describe how to apply the clinical information for selection of appropriate laboratory investigations.
This paper references
10.1159/000116969
Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia.
G. Defazio (1993)
10.1002/MDS.870120203
Multiple system atrophy: A review of 203 pathologically proven cases
G. Wenning (1997)
10.1016/S0016-5085(97)70097-0
Wilson's disease in patients presenting with liver disease: a diagnostic challenge.
P. Steindl (1997)
10.1136/jnnp.42.12.1106
Primary writing tremor.
J. Rothwell (1979)
10.1093/HMG/5.10.1673
Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution.
B. Leube (1996)
10.1212/WNL.36.3.398
Spontaneous remissions in spasmodic torticollis
A. Friedman (1986)
10.1212/01.WNL.0000149764.34953.BF
Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation
K. Asanuma (2005)
10.1002/ANA.410320502
Long‐term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa‐responsive dystonia
T. Nygaard (1992)
10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B
Dopa‐responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene
Y. Furukawa (2000)
10.1016/0022-510X(71)90206-1
Dystonia musculorum deformans. Analysis with electromyography.
N. Yanagisawa (1971)
10.1002/ANA.410360514
Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation
S. Bressman (1994)
10.1056/NEJMP020158
Hallervorden and history.
M. Shevell (2003)
10.1038/ng709
Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome
A. Zimprich (2001)
10.1212/01.WNL.0000085871.98174.4E
The “double panda sign” in Wilson’s disease
D. Jacobs (2003)
10.1089/GTE.1999.3.323
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
C. Klein (1999)
10.1016/J.YMGME.2004.07.010
Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test.
R. Saunders-Pullman (2004)
10.1136/jnnp.54.7.624
Mid-brain pathology of Wilson's disease: MRI analysis of three cases.
S. Hitoshi (1991)
10.1002/ana.73
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset
E. M. Valente (2001)
10.1093/HMG/4.7.1209
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
P. Knappskog (1995)
10.1093/BRAIN/34.4.295
PROGRESSIVE LENTICULAR DEGENERATION: A FAMILIAL NERVOUS DISEASE ASSOCIATED WITH CIRRHOSIS OF THE LIVER
S. A. Wilson (1912)
10.1212/WNL.36.1.68
Progressive dementia and epilepsy in a young adult
M. Yerby (1986)
10.1136/jnnp.72.3.300
Dystonia in multiple system atrophy
S. Boesch (2002)
10.1212/WNL.46.4.1040
Neurologic presentation of Wilson disease without Kayser-Fleischer rings
M. Demirkiran (1996)
10.1016/S0387-7604(00)00148-0
Hereditary progressive dystonia with marked diurnal fluctuation
M. Segawa (2000)
10.1007/BF00867421
A genetic study of idiopathic focal dystonias
M. Stojanovic (2004)
10.1002/MDS.870050205
Primary writing tremor. A form of focal dystonia?
R. Elble (1990)
10.1212/01.WNL.0000099076.17187.9A
Autosomal recessive, DYT2-like primary torsion dystonia
N. L. Khan (2003)
10.1212/01.wnl.0000171857.09079.9f
Camptocormia: Pathogenesis, classification, and response to therapy
S. Azher (2005)
10.1002/J.1939-4640.1991.TB00245.X
Assessment of the hypothalamic-pituitary-testicular function in male patients with Wilson's disease.
M. Frydman (1991)
10.1002/MDS.870060206
Idiopathic cervical dystonia: Clinical characteristics
J. Chan (1991)
10.1111/j.1600-0404.1994.tb02679.x
Hand dystonia secondary to cervical demyelinating lesion
A. Uncini (1994)
10.1038/ng0997-40
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
L. Ozelius (1997)
10.1002/mds.1118
Dystonia in Wilson's disease
M. Svetel (2001)
10.1006/GENO.1996.0013
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.
G. Auburger (1996)
10.1212/WNL.35.9.1387
Primary writing tremor and myoclonic writer's cramp
J. Ravits (1985)
10.1212/01.WNL.0000142035.26034.C2
Age at onset as a factor in determining the phenotype of primary torsion dystonia
S. O'Riordan (2004)
10.1046/j.1468-1331.2003.00503_1.x
Camptocormia as a form of dystonia in Parkinson's disease
J. Slawek (2003)
10.1002/mds.1038
Dystonia in corticobasal degeneration
Z. Vanek (2001)
10.1002/ANA.410440411
Dopa‐responsive dystonia: A clinical and molecular genetic study
O. Bandmann (1998)
10.1212/WNL.50.4.1021
Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia
L. Bezin (1998)
10.1002/ANA.410160313
Dystonia in 61‐year‐old identical twins: Observations over 45 years
R. Eldridge (1984)
10.1001/ARCHNEUR.60.3.379
Treatment of Wilson Disease With Ammonium Tetrathiomolybdate: III. Initial Therapy in a Total of 55 Neurologically Affected Patients and Follow-up With Zinc Therapy
G. Brewer (1996)
10.1212/WNL.58.2.242
Myoclonus dystonia
R. Saunders-Pullman (2002)
Dystonia genotypes, phenotypes, and classification.
S. Bressman (2004)
10.1002/mds.10411
Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
M. Edwards (2003)
10.1136/jnnp.72.1.59
The natural history and treatment of acquired hemidystonia: report of 33 cases and review of the literature
C. Chuang (2002)
10.1212/WNL.52.4.877
GCH1 mutation in a patient with adult-onset oromandibular dystonia
D. Steinberger (1999)
10.1038/NG1194-236
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
H. Ichinose (1994)
10.1002/ANA.410260505
Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance
S. Bressman (1989)
10.1002/MDS.870050403
Alcohol‐responsive myoclonic dystonia in a large family: Dominant inheritance and phenotypic variation
M. Kyllerman (1990)
10.1136/jnnp.57.4.460
Lessons from a remarkable family with dopa-responsive dystonia.
G. Harwood (1994)
10.1086/302682
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
H. Tomita (1999)
10.1212/WNL.48.5.1290
Oral phenylalanine loading in dopa‐responsive dystonia
K. Hyland (1997)
10.1002/ANA.410420421
Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families
L. Almasy (1997)
10.1002/MDS.870100204
Spread of symptoms in idiopathic torsion dystonia
P. Greene (1995)
10.1007/BF00225091
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
B. Lüdecke (2004)
10.1136/jnnp.63.3.304
GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs
P. Jarman (1997)
10.1002/ANA.410170421
Late‐onset Wilson's disease with neurological involvement in the absence of Kayser‐Fleischer rings
M. Ross (1985)
10.1093/BRAIN/AWG142
Parkin disease: a phenotypic study of a large case series.
N. L. Khan (2003)
10.1212/WNL.58.12.1839
Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14
H. Grötzsch (2002)
10.1016/j.neuron.2004.06.028
Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism
P. M. Aguiar (2004)
10.1002/mds.10301
Secondary cervical dystonia associated with structural lesions of the central nervous system
M. LeDoux (2003)
10.1002/MDS.870100416
Cervical dystonia due to spinal cord ependymoma: Involvement of cervical cord segments in the pathogenesis of dystonia
A. Cammarota (1995)
10.1212/WNL.55.11.1735
Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of l-dopa
D. Steinberger (2000)
10.1136/jnnp.48.3.218
Hereditary whispering dysphonia.
N. Parker (1985)
10.1056/NEJMOA020817
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
S. Hayflick (2003)
10.1136/jnnp.52.Suppl.96
Clinical variants of idiopathic torsion dystonia.
S. Fahn (1989)
10.1002/ana.10630
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)
M. Segawa (2003)
10.1378/CHEST.91.4.579
Cardiac Wilson's disease.
P. Kuan (1987)
Cardiac involvement in Wilson's disease--an electrocardiographic observation.
S. Meenakshisundaram (2004)
10.1136/jnnp.62.4.352
Dystonia in progressive supranuclear palsy.
C. Barclay (1997)
10.1212/WNL.59.8.1183
A novel locus for inherited myoclonus-dystonia on 18p11
D. Grimes (2002)
10.1002/MDS.870030302
Epidemiology of focal and generalized dystonia in Rochester, Minnesota
J. Nutt (1988)
10.1212/WNL.54.9.1746
The DYT1 phenotype and guidelines for diagnostic testing
S. Bressman (2000)
10.1093/clinchem/47.3.477
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
L. Bonafė (2001)
10.1016/0925-4439(91)90069-L
Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing.
M. Vanier (1991)
10.1007/s004390050756
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
L. P. van den Heuvel (1998)
10.1002/MDS.870120321
6‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study
T. Hanihara (1997)
10.1002/mds.10634
Phenotypic characterization of DYT13 primary torsion dystonia
A. Bentivoglio (2004)
10.1111/J.1469-8749.1997.TB08204.X
Dopa‐responsive childhood dystonia: a forme fruste with writer's cramp; triggered by exercise
T. Deonna (1997)
10.1093/BRAIN/123.6.1112
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
J. Tassin (2000)
Early-onset parkinsonism with dystonia. Clinical and biochemical differences from hereditary progressive dystonia or DOPA-responsive dystonia.
Y. Furukawa (1996)
Update on dopa-responsive dystonia: locus heterogeneity and biochemical features.
Y. Furukawa (2004)
10.1083/jcb.200411026
The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein
Rose E Goodchild (2005)
10.1002/mds.10292
Neurophysiological investigations in patients with primary writing tremor
N. Modugno (2002)
10.1002/mds.20807
Changes in cortical inhibition during task‐specific contractions in primary writing tremor patients
M. Ljubisavljevic (2006)
10.1136/JNNP.47.11.1236
Remission in spasmodic torticollis.
D. Jayne (1984)
10.1002/ANA.410240519
Hallervorden‐spatz syndrome: Clinical and magnetic resonance imaging correlations
K. Sethi (1988)
10.1002/mds.20628
Diagnostic significance of reduced serum caeruloplasmin concentration in neurological disease
J. Walshe (2005)
10.1212/01.WNL.0000120541.97467.FE
Regional metabolism in primary torsion dystonia
M. Carbon (2004)
10.1212/01.WNL.0000152839.50258.A2
High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening
J. Hagenah (2005)
10.1001/ARCHNEUR.61.7.1025
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
S. Rainier (2004)
10.1136/jnnp.56.8.865
Successful treatment of childhood onset symptomatic dystonia with levodopa.
N. Fletcher (1993)
10.1212/WNL.37.9.1546
Limb dystonia in progressive supranuclear palsy
R. Rafal (1987)
10.1212/WNL.50.4.1015
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
Y. Furukawa (1998)
10.1016/0887-8994(94)90109-0
Dopa-responsive dystonia simulating cerebral palsy.
T. Nygaard (1994)
10.1073/pnas.1831949100
Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism
D. Nolte (2003)



This paper is referenced by
10.1016/S0304-5412(11)70035-X
Trastornos de la motilidad
Mario Riverol Fernández (2011)
10.2147/NDT.S116325
Quality of life in cervical dystonia after treatment with botulinum toxin A: a 24-week prospective study
S. Kongsaengdao (2017)
10.1590/S0004-282X2012000900013
New algorithm for the diagnosis of hereditary dystonia.
S. Camargos (2012)
10.3389/fncel.2014.00205
Striatal cholinergic interneurons in isolated generalized dystonia—rationale and perspectives for stem cell-derived cellular models
P. Capetian (2014)
10.1016/j.neuroimage.2009.03.057
Genotype–phenotype interactions in primary dystonias revealed by differential changes in brain structure
B. Draganski (2009)
10.1007/s00415-011-5961-9
Factors predicting protracted improvement after pallidal DBS for primary dystonia: the role of age and disease duration
Ioannis U. Isaias (2011)
10.1016/j.ejpn.2008.12.001
Early onset primary dystonia.
G. Zorzi (2009)
10.1155/2012/634214
Untethering the Nuclear Envelope and Cytoskeleton: Biologically Distinct Dystonias Arising from a Common Cellular Dysfunction
Nadia A. Atai (2012)
10.1002/jcb.29223
A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis
Samuel B. Burnett (2019)
The Effectiveness of Medication vs Medication Plus EMG Bio feedback on Motor Symptoms in Females with Chronic Focal Dystonia
A. Jahanbazi (2013)
10.1016/J.NEUROL.2008.02.030
Dystonie généralisée sévère liée à des calcifications cérébrales postradiques
Jean-Baptiste Chanson (2008)
10.1016/J.NEUROL.2009.09.007
Dystonies monogéniques : l’hypothèse dopaminergique revisitée
Arnaud Blanchard (2010)
10.1055/s-0029-1213731
Movement disorders caused by medical disease.
B. Barton (2009)
10.1111/j.1365-2990.2012.01298.x
Review: Genetics and neuropathology of primary pure dystonia
R. Paudel (2012)
PATHOPHYSIOLOGY AND ETIOLOGY OF DYSTONIA : FOCUS ON GENETIC FORMS AS CLUES TO PATHOPHYSIOLOGY
R. Saunders-Pullman (2017)
10.1016/j.pain.2009.01.024
Motor dysfunction in CRPS and its treatment
Srinivasa N Raja (2009)
10.1093/brain/awp172
The monogenic primary dystonias.
U. Müller (2009)
10.1017/CBO9780511933851.016
Neurology: Hyperkinetic movement disorders
Andrew Tarulli (2010)
10.3171/2010.3.JNS09981
Restoration of erect posture in idiopathic camptocormia by electrical stimulation of the globus pallidus internus.
D. Sakas (2010)
10.1159/000345830
Deep Brain Stimulation in Children with Dystonia: Experience from a Tertiary Care Center
P. Ghosh (2012)
Bainbridge Whole-Genome Sequencing for Optimized Patient Management
M. Bainbridge (2011)
10.17925/ENR.2009.04.02.74
Pain and Quality of Life in the Treatment of Cervical Dystonia
M. Coelho (2009)
10.1002/mds.25088
Age at onset and symptom spread in primary adult‐onset blepharospasm and cervical dystonia
D. Martino (2012)
10.1097/WCO.0b013e3283633696
Primary and secondary dystonic syndromes: an update
G. Charlesworth (2013)
10.1016/j.arcped.2010.02.016
[Treatment of childhood dystonia].
Agathe Roubertie (2010)
10.2174/0929867311320030002
A genetic dissection of antipsychotic induced movement disorders.
C. Crisafulli (2013)
Methods to bring focus to desired muscle patterns
Shanie A. Liyanagamage (2017)
10.1016/J.NRL.2013.12.024
Distonía del músico: fenomenología y desencadenantes vinculados a la ejecución musical
R. Aránguiz (2015)
10.7861/clinmedicine.16-4-383
What is new in tics, dystonia and chorea?
A. Macerollo (2016)
10.1111/EVE.12594
Metoclopramide‐induced acute dystonic reactions in the horse
T. Doherty (2017)
10.1038/nrn2337
The pathophysiological basis of dystonias
X. Breakefield (2008)
10.1093/brain/awt138
The genetics of dystonia: new twists in an old tale
G. Charlesworth (2013)
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