Neurological Cases

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Invited Review

Dystonia: A Review and Update

Christine A. Cooper, MD* and Meredith Spindler, MD

II. HISTORY

Abstract Dystonia is the third most common movement

disorder, yet remains widely under-recognized. Dystonia may be a
primary disorder or symptomatic of an additional underlying
neurological condition. Accurate diagnosis and effective
treatment for patients will rely on increased awareness and
knowledge about dystonia. In this review, we summarize the
history, epidemiology, and pathophysiology of dystonia, followed
by a focus on clinical features and the new classification system.
We then highlight evidence-based recommendations from clinical
trials.

The term dystonia was first introduced in a 1911 paper by

Hermann Oppenheim, a preeminent German neurologist.2 In
the paper, he described a condition in four unrelated Jewish
children from Russia and Galicia, in which tone was
intermittently increased or decreased. The condition was
further characterized by muscle spasms causing twisted
postures of the limbs and trunk, including scoliosis and
lordosis. The twisted postures worsened with walking, and at
times resembled a dromedary. The condition was progressive
and some postures became fixed over time. 2 While he initially
considered these patients to have either hysteria or bilateral
athetosis, ultimately he decided this was a new disease and
proposed the names dystonia musculorum deformans and
dysbasia lordotica progressiva.2,3
Oppenheim may have coined the term dystonia, but he was
not the first to describe patients with this phenomenology.
Marcus Walter Schwalbe, a psychiatry doctoral student,
described three Jewish siblings from Lithuania with similar
presentations in his thesis presentation. He referred to their
condition as maladie des tics and tonic cramps with hysterical
symptoms. In 1911, Schwalbes professor, Theodor Ziehan,
published these cases as torsion neurosis.2 Also in 1911, a
third paper was published from Edward Flatau and Wladyslaw
Sterling in Poland, describing a similar condition in two Jewish
boys as progressive torsion spasms.2
Cases of what we now recognize as dystonia were described
by the medical community as early as 1713, when a description
of probable writers cramp was published.4,5 Subsequent
reports include a case dubbed Scriveners palsy in 1864 6;
descriptions of writers cramp by the British Civil Service in
the 1830s6; cases of blepharospasm and oromandibular
dystonia by Horatio Wood in 18877; publication of wry neck
photos in 18968; and a case of tetanoid chorea in Wilsons
disease by William Gowers in 18889.
In 1929, it was widely believed within the medical
community that dystonia was a symptom of an underlying
condition, rather than a unique disease.2 This perspective was
largely based on the growing number of cases of dystonia
described as secondary to cerebral palsy, post-encephalitic
parkinsonism, Wilsons disease, Parkinsons disease, and

Keywords dystonia, dystonic disorders, movement disorders.

I. INTRODUCTION AND DEFINITION

YSTONIA is the third most common movement disorder,

yet it is still a widely under-recognized disorder,
particularly to medical practitioners outside of neurology. This
may be partly due to the variability in its clinical presentation.
The definition of dystonia was recently updated by an
international panel of experts in a special issue of the Movement
Disorders journal to reflect this heterogeneity:1
Dystonia is defined as a movement disorder characterized
by sustained or intermittent muscle contractions causing
abnormal, often repetitive movements, postures, or both.
Dystonic movements are typically patterned, twisting, and may
be tremulous. Dystonia is often initiated or worsened by
voluntary action and associated with overflow muscle
activation.
This article summarizes the origins, clinical features,
evaluation, and management of this complex disorder for the
practicing clinician.
1
Submission August 28, 2015. Accepted on August 30, 2015. The authors
have no relevant disclosures.
Department of Neurology, University of Pennsylvania, Philadelphia,
Pennsylvania. Penn Neurological Institute, 330 S. 9th Street, Philadelphia, PA
19107, USA.
*Correspondence to Dr. Christine Cooper
(e-mail:
Christine.Cooper@uphs.upenn.edu).

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Huntingtons disease. However, in 1944, Dr. Ernst Herz, a

German-American neurologist, described cases of isolated
dystonia with an electromyographic signature of co-contraction
of agonist and antagonist muscles. His cases as well as the
unique electromyographic findings supported its existence as a
primary disorder.2,10 Since this time there has been considerable
growth in the understanding of the etiology and treatment of
dystonia as a primary disease.

based on clinical characteristics and associated features, the

second is focused on etiology.
Axis 1 classification includes the key clinical aspects of age
of onset, body distribution, and temporal pattern. Categories for
age of onset include infancy (0-2 years), childhood (3-12
years), adolescence (13-20 years), early adulthood (21-40
years), and late adulthood (over 40 years). Body distribution
can be focal, segmental (two contiguous body regions),
multifocal (more than one non-contiguous body region),
generalized, or hemidystonia, the latter of which is usually
secondary to an underlying neurological insult. The temporal
pattern is specified in terms of disease course, whether static or
progressive; and variability, which can be described as
task-specific, diurnal, paroxysmal, or persistent. This axis also
includes associated features to separate isolated (formerly
primary) dystonia from dystonia combined with other
movement disorders, neurological findings, or systemic
manifestations.1
Axis 2 is designed to provide classification by etiology.1 It
takes into account pathology, inheritance, and potential
underlying causal mechanisms. Often there is no obvious
pathological finding in individuals with dystonia, but if present,
these may include evidence of degeneration or structural
lesions. A structural lesion is likely to cause a static course.
Inheritance may be autosomal dominant, autosomal recessive,
X-linked, or mitochondrial. If no family history is present,
dystonia is considered sporadic. Reported cases of acquired
dystonias include lesions due to brain injury, infection, toxins,
drugs, vascular abnormalities, paraneoplastic syndromes, or
functional origin.
It is important to mention that another commonly used
classification for inherited dystonias is the DYTn coding
system developed by the Human Genome Organization Gene
Nomenclature Committee. Several problematic features of this
system prompted the development of the new 2013
classification system. These problematic features include the
following: many DYTn designations were made as
placeholders before the actual gene loci abnormalities were
identified; the genes included are both risk factors and
causative mutations; some DYTn designations are limited to
single families or have later been found to have erroneous
linkage; the list incorrectly suggests that the disorders are of the
same phenotype and primarily dystonic in nature; the
classification system is incomplete with both missing inherited
dystonias and missing loci.1,15 Despite these concerns with the
DYTn coding system, the DYT descriptions are widely used in
dystonia nosology and we will include these in the descriptions
of selected dystonias below.

III. EPIDEMIOLOGY
In general, the prevalence of dystonia is likely
underestimated due to under-diagnosis. Moreover, differences
in study designs and populations yield highly variable
estimates. The prevalence of primary early-onset dystonia in
the Ashkenazi Jewish population in New York City has been
proposed to range from 50 to 111 people per million. 11 In
northern England, the prevalence of primary late-onset dystonia
is estimated to be 430 to 600 people per million. 12 The
Rochester Epidemiology Project found the United States
incidence of primary early-onset dystonia to be 2 per million
per year, and the incidence of late-onset dystonia to be 24 per
million per year.13

IV. CLINICAL FEATURES

The clinical features of dystonia are highly variable between
individuals, and also intermittent within a single individual. To
those unfamiliar with dystonia, the presentations can appear
bizarre and raise suspicion of a functional etiology. Accurate
diagnosis relies heavily on the medical providers familiarity
with the range of clinical characteristics of dystonia.
While individual presentations of dystonia vary, as a
disorder, dystonia has a number of common clinical features.
Abnormal movements and postures are usually stereotyped,
involving the repeated contractions of the same muscle groups.
The postures are often sustained, though phasic movements and
tremor are common. The dystonia is activated by voluntary
movements, frequently worse with walking, and may even be
task-specific. The presence of a sensory trick (geste
antagoniste) is highly suggestive of dystonia.
In addition to motor abnormalities, mood disorders including
anxiety, social phobia, and major depression are common in
patients with dystonia, and may precede the onset of motor
symptoms.14 The presence of these non-motor symptoms
further misleads many clinicians to make the misdiagnosis of a
functional movement disorder.

SELECTED DYSTONIAS AND DIAGNOSTIC EVALUATION

The four cases Oppenheim originally described in his paper
are cases of what we now call early-onset generalized isolated
dystonia (Videos 1-3). The first identified genetic cause of
early-onset generalized dystonia is DYT1, caused by a
mutation in the gene encoding Torsin 1A. The most common

CLASSIFICATION
Over the last century, as knowledge of the characteristics and
etiologies of dystonia has grown, classification systems have
evolved to highlight these differences. The most recent
classification scheme proposed in 2013 was developed to help
detect clinical syndromic patterns to aid in ascertaining the
underlying etiology.1 This scheme has two axes; the first is
2

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Focal dystonias
Blepharospasm
Oromandibular dystonia

Spasmodic dysphonia
Musicians dystonia

Writers cramp
Inversion dystonia (runners
dystonia)
The yips (in athletes, classically
golfers)

Clinical features
Increased blink frequency, forced
eye closure
Jaw opening, closing, or
deviation; tongue, platysma, and
lip involvement common; may be
associated with cervical dystonia
or blepharospasm
Tight, strangled, whispery voice

Misdiagnoses
Tics, dry eyes, myasthenia gravis

Task-specific to instrument, most

often focal hand or embouchure,
depending on instrument; 1 in 200
professional musicians; 4:1 males
to females
Task-specific to writing

Cramps, fatigue, peripheral

neuropathy

Foot inversion and plantar

flexion; task specific to walking or
running
Focal hand dystonia resulting in
loss of dexterity and coordination
and decline in athletic
performance

Temporomandibular joint
disorders, dental problems

Laryngitis, strain, functional

Cramps, fatigue, peripheral

neuropathy
Foot drop, arthritis

Anxiety

Table 1: Examples of focal dystonias, clinical characteristics, and common misdiagnose

mutation in this gene, TOR1 A, is a three base pair

deletion in the coding region. This specific mutation is
found in 90% of Ashkenazi Jewish cases, and in 60% of
non-Jewish cases.16 Although this is a dominant
mutation, penetrance is roughly only 30%.17 Typically
the initial onset involves a limb and occurs prior to the
age of 26. Over time, the dystonia generalizes, but often
spares cranial muscles. In adults, there may be limited
spread, resulting in only focal limb involvement.
DYT6 dystonia is another autosomal dominant
disorder with reduced penetrance. It is associated with a
THAP1
gene
mutation,
first
reported
in
Amish-Mennonite families, but is now known to be
more widespread. Typically it causes adolescent or
adulthood onset of cranio-cervical or upper-limb
dystonia, which occasionally goes on to generalize.
Segawas disease, DYT5, is one of the Dopa
Responsive Dystonias (DRDs). These dystonias are due
to a deficiency within the dopamine synthesis pathway.
The most salient clinical features of DRDs are diurnal
fluctuations and a robust response to levodopa. Most
often DYT5 has childhood onset, affecting females more
than males. There is variable expression, as it may also
present as a gait disorder or developmental delay. In
adults, it presents as a focal or multifocal dystonia, or
parkinsonism.
Dystonia in children is commonly misdiagnosed as
scoliosis, cerebral palsy, or a functional movement
disorder. The recommended diagnostic evaluation in
children is genetic testing for the DYT1 (TOR1A) and

DYT6 (THAP 1) mutations, a levodopa trial to determine

presence of a DRD, copper studies to rule out Wilsons
disease, brain imaging, and metabolic studies to look for
other neurological or systemic diseases, particularly if
there are any additional findings on physical exam.
Adult-onset focal dystonias most often occur in early
or late adulthood. They can be focal or segmental,
persistent or paroxysmal, and sporadic or familial. Of the
few known autosomal dominant genetic mutations
linked to adult-onset focal dystonia, the penetrance is
estimated to be 12-15%,18 which may cloud the
inheritance pattern and thereby appear sporadic.
Cervical dystonia is the most common manifestation of
adult-onset focal dystonia (video 4). It can appear to
have a fairly abrupt onset, and is not typically
progressive. Neck pain is present in 75% of patients.19
Sensory tricks are present in over 50% of patients. 20
About 10% of cases remit spontaneously, but the
majority recur.19 There is a 2:1 female to male ratio, with
a peak age of onset of 40-50 years. The abnormal head
posture may consist of lateral rotation (turn, or
torticollis), tilt (laterocollis), neck flexion (anterocollis)
or extension (retrocollis), lateral shift, sagittal shift, or
shoulder elevation.
Tremulous or jerky phasic
movements often accompany tonic abnormal posture.
Typically, there is visible or palpable local muscle
hypertrophy of the sternocleidomastoid and posterior
neck musculature. Common misdiagnoses in cervical
dystonia include osteoarthritis, disc herniation, neck
strain, essential tremor, and functional origin.

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It is important to identify non-dystonic causes of

torticollis, though rare, as these include potentially
malignant etiologies. Non-dystonic torticollis can result
from orthopedic injuries, congenital muscular torticollis,
cervical cord tumors, posterior fossa tumors, neck or
pharyngeal abscesses, and trauma. Diagnostic clues to
these non-dystonic causes include the lack of a sensory
trick, fixed neck and shoulder postures, lack of
involuntary movements, persistence in sleep, and
antecedent trauma.
Other types of focal dystonias are listed in Table 1 and
include blepharospasm (video 5), writers cramp, and
inversion dystonia (videos 2 and 3, respectively, in a
case of generalized dystonia). The evaluation of new
adult-onset focal dystonia must include a thorough
neurological exam, particularly looking for signs of
parkinsonism, as idiopathic Parkinsons disease can
present with dystonia or develop it later in the disease
course (videos 5 and 6). Additional investigations should
include brain imaging; cervical imaging for torticollis
with atypical features, particularly if it is of acute onset
or fixed posture; copper studies to rule out Wilsons
disease; and a levodopa trial for DRD, particularly for
multifocal dystonias.
Acquired dystonias, also referred to as secondary
dystonias, may be suspected in cases of hemidystonia,
fixed postures, abnormal head imaging, history of brain
injury, or the presence of other neurological findings.
Table 2 lists possible etiologies of acquired dystonias.
V. PATHOPHYSIOLOGY
Physiological studies that seek to identify the basis for
dystonia have been hindered by difficulty in
differentiating which physiologic features are causal
versus secondary. The principle pathophysiological
components are reduced intracortical inhibition, sensory
dysfunction, and abnormal synaptic plasticity.21 There is
evidence from studies utilizing several different
modalities of reduced inhibition in the spinal cord,
brainstem, and cerebral cortex, supporting the
hypothesis that the disrupted surround inhibition results
in overflow activation and loss of selectivity.21 The
sensory dysfunction in dystonia includes sensory
alterations preceding symptom onset, and loss of sensory
spatial and temporal discrimination. Synaptic plasticity
in dystonia is altered, disrupting homeostasis. This leads
to facilitation of synaptic potentiation and loss of
inhibitory processes.21 Currently, it is thought that these
changes in the sensorimotor system lead to the
development of dystonic movements.
VI. MANAGEMENT
Treatment for dystonia consists of medications,
chemodenervation,
and
surgical
therapies.
Dopa-responsive dystonia responds well to low doses of
dopaminergic
therapy.
Other
pharmacological
treatments for dystonia do not target specific deficient
biological pathways and their efficacy is less predictable.

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Acquired causes of dystonia

Perinatal brain injury
Demyelinating disease
Head trauma
Encephalitis
Peripheral trauma
Pontine myelinolysis
Stroke
Cardiolipin antibodies
Tumor
Drug-induced
Table 2: Potential causes of acquired dystonia

Trihexyphenidyl is one of the most studied medications

in dystonia. It is often used in the treatment of
generalized dystonia, and is particularly better tolerated
in children.22 In a double-blind crossover study of 31
patients with primary dystonia, trihexyphenidyl
provided a clinically significant improvement of
symptoms in 71% of patients.23 Use of trihexyphenidyl
is often limited in adults due to cognitive dulling and
other anticholinergic side effects.
Dopamine receptor blockers may cause cognitive
dulling, tardive dyskinesias, and other side effects,
limiting their efficacy in dystonia. Of these, clozapine,
an atypical neuroleptic, has less risk of tardive
dyskinesia, and has improved tardive dystonia
symptoms in 5 out of 5 patients in an open label trial,
although treatment was limited by side effects and the
need for monitoring, resulting in the discontinuation of
therapy in 3 of these 5 patients.24 Tetrabenazine is a
reversible pre-synaptic monoamine depleter that can be
beneficial especially for tardive dystonia.25
Other medications often used to treat dystonia, largely
based on empiric evidence, include muscle relaxants and
benzodiazepines. Of these, baclofen is recommended as
the most effective.22 Intrathecal baclofen has been shown
to provide symptom improvement in patients with
medication-refractory generalized dystonia in a cohort of
86 patients, 71% of whom had dystonia associated with
cerebral palsy.26
Chemodenervation with botulinum toxin injections is
now the most highly recommended treatment in focal
and segmental dystonia given its high efficacy and low
rate of systemic side effects. There have been a few
double-blinded, placebo-controlled studies showing the
efficacy of botulinum toxin injections in cervical
dystonia.27,28 It is also effective for other focal dystonias,
including focal hand dystonia and adductor spasmodic
dysphonia.29,30 The primary potential side effect of
concern from botulinum toxin injections is temporary
excessive muscle weakness in the muscles injected or
adjacent muscles due to medication spread. Depending
on the area injected, this muscle weakness may cause

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dysphagia, ptosis, or impaired limb use until the effects

of the botulinum toxin wear off.
Deep brain stimulation (DBS) can be effective in
decreasing dystonia symptoms and improving quality of
life in medication-refractory generalized dystonia.31,32 In
primary generalized DYT1 dystonia, shorter disease
duration at the time of surgery is associated with better
long-term DBS outcomes.33 There have been increasing
reports of efficacy of DBS for cervical dystonia. A recent
randomized sham-controlled trial showed efficacy of
pallidal DBS in improving cervical dystonia symptoms
in patients with sub-optimal response to botulinum toxin
injections.34 Pallidal DBS can also be of benefit in
medication-refractory
tardive
dystonia.35
Comprehensive reviews of DBS for dystonia have been
recently published by Vidailhet36 et al. and Mills et al.37.
Currently, there is not enough evidence of efficacy of
paramedical therapies such as physical therapy, speech
therapy, sensorimotor training, or transcutaneous
electrical nerve stimulation (TENS) to recommend these
as treatments for dystonia.38
VII. CONCLUSIONS
Dystonia is a common movement disorder with
variable presentations that is often unrecognized and
under-diagnosed. In the past century, there have been
tremendous advances in understanding the pathology
and genetics of dystonia, which has led to improvements
in diagnosis and classification. Individuals with dystonia
will benefit from continued improvements in clinical
recognition, diagnosis, and treatment.

APPENDIX

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Video 3: Patient 1. Foot inversion dystonia due to

generalized dystonia.
This video demonstrates inversion of both feet, left
greater than right, as well as left greater than right,
dystonic posturing of the hands while walking. The foot
inversion is task-specific, as it is seen while walking but
not in the previous videos while at rest or performing
rapid alternating movements.
Video 4: Patient 2. Cervical dystonia.
This patients cervical dystonia is characterized by left
torticollis, right laterocollis, and limited range of motion
of right head turn with associated irregular, jerky
dystonic head tremor. Right sternocleidomastoid
hypertrophy is visible, best seen in this video while
patient is turning to the left. Left head turn reaches a null
point, at which the patient no longer has any involuntary
muscle contraction.
Video 5: Patient 3. Blepharospasm associated with
Parkinsons disease.
This patient has dystonia affecting her eyes and limbs
associated with Parkinsons disease. This video features
blepharospasm, dystonia causing involuntary eyelid
closure. She demonstrates how a sensory trick of
touching and pulling on the skin below her eyes allows
her eyes to open.
Video 6: Patient 3. Dromedary gait due to lower
extremity dystonia associated with Parkinsons disease.
This video demonstrates mild right foot plantar
flexion and inversion, with compensatory toe extension.
As the patient walks, she develops a dromedary gait,
particularly in the right leg, with right hip and knee
flexion during the swing phase. Both hands are held in a
dystonic posture, fisted with thumb extension.

Video captions:
Video 1: Patient 1. Generalized dystonia.
This patients dystonia started in childhood; genetic
testing for known causes of generalized dystonia have
been negative. This video demonstrates prominent
craniocervical
dystonia,
including
jaw-closure,
grimacing, blepharospasm, right laterocollis, right
torticollis, left lateral shift, posterior sagittal shift,
anterocollis (downward deviation of the chin), all
increased with activation, especially speech. Speech
reveals dystonic tongue movements and spasmodic
dysphonia This video also demonstrates mild dystonic
posturing of the left arm and associated hypokinesia and
decrement of rapid alternating movements, left greater
than right.
Video 2: Patient 1. Writers cramp due to generalized
dystonia.
Dystonic posturing of the right hand is seen while
writing, characterized primarily by wrist extension, with
associated finger flexion that may be dystonic or
compensatory.

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Questions (please choose one single answer):

1. Which of the following clinical features is NOT suggestive of
dystonia?
A.
B.
C.
D.

presence of a sensory trick

triggered by voluntary movements
non-stereotyped, random movements
task-specific

2. The 2013 guidelines for dystonia classification define Axis 1 as

being related to ______, and Axis 2 as defining ______.
A.
B.
C.
D.

clinical features; etiology

family history; response to treatment
etiology; response to treatment
family history; clinical features

3. Which of the following is NOT recommended based on efficacy

found in clinical trials as a treatment for dystonia?
A.
B.
C.
D.

Trihexyphenidyl
Botulinum toxin chemodenervation
Deep brain stimulation
Physical therapy

Answers: 1. C. 2. A. 3. D.