Hyperkinetic movement disorders (including dystonias, choreas)

Author(s): Heather R. Ene, MD

Originally published:09/20/2014

Last updated:09/20/2014

1. DISEASE/DISORDER:

Definition

Hyperkinetic movement disorders (HMDs) are characterized by excessive abnormal involuntary movements. Hyperkinesias that frequently present in practice include athetosis, ballism, chorea, dystonia, myoclonus, restless leg syndrome, (RLS) steropathy, tics and tremor. Less common hyperkinesias include abdominal dyskinesia, akisthesia, hemifacial spasm, hyperkerplexia (startle syndromes), “jumpy stumps,” painful moving toes and fingers, myokymia, synkinesis, myorhythmia, and paroxysmal dyskinesia.1,2 HMDs are recognized by their phenomenology, and sometimes via electrophysiological means.

Athetosis Slow, writhing, continuous, involuntary movement.
Ballism Large amplitude choreic movements in proximal limbs causing violent flinging motions.
Chorea Involuntary, purposeless, nonrhythmic, rapid, unsustained movements that flow from one body part to another.
Dystonia Sustained or intermittent involuntary contractions of agonist and antagonist muscles, frequently causing repetitive movements and/or abnormal postures.
Myoclonus Sudden, brief, shock-like involuntary movements caused by muscular contractions or inhibitions.
RLS Unpleasant crawling sensations (generally in the legs and usually occurring in the evenings), which are relieved with walking. May be associated with periodic leg movements of sleep, myoclonic jerks, sustained dystonic movements or sterotypic movements that occur when the person is awake.
Stereopathy Coordinated movements that repeat and are identical.
Tics Simple or complex abnormal movements or sounds usually preceded by an uncomfortable feeling or sensory urge that is relieved by carrying out the behavior.
Tremor Rhythmic oscillation of a body part around one or more joints.

Etiology

The causes of HMDs are diverse. For example, normal physiological tremor may be amplified under psychological or physiologic (e.g., toxic-metabolic) stress . Tremor can also be a feature of neurodegenerative disorders or a central nervous system lesion (e.g., mutliple sclerosis), accompany dystonia, or be psychogenic. Primary dystonia (PTD) occurs in isolation and is sporadic or inherited. Secondary dystonia is symptomatic of another disorder (e.g., stroke, Wilson disease).3,4 Post-traumatic dystonia remains controversial as a diagnosis.Psychogenic dystonia is well-documented.1Chorea is associated with genetic disorders, structural lesions in the basal ganglia, autoimmune diseases, para-infectious disorders, infections, toxic metabolic encephalopathies and drug-induced states.6,7Athetosis is most commonly seen in cerebral palsy, but can occur with other disorders.1

Epidemiology including risk factors and primary prevention

Incidence and prevalence estimates for HMDs vary widely. Tremor is the most common HMD,1and essential tremor (ET) and Parkinson’s Disease (PD) are the most common tremor-related diagnoses in clinical practice. The prevalence of ET is about 10-20 million individuals in the U.S., and 0.4-6.3% world-wide. The prevalence of PD (a hypokinetic disorder) in industrialized countries is about 0.3% of the general population and 1% of individuals > 60 years old.8Prevalence estimates for PTD range from 2-50 cases/million for early-onset dystonia and 30-7320 cases/million for late-onset dystonia.Focal dystonia is about 10 times more common than generalized dystonia. Cervical dystonia (CD) is the most frequently diagnosed focal dystonia.4

Drug exposure is an important modifiable risk factor for HMDs.7,10,11 Drugs that block dopamine receptors (e.g., neuroleptics) or central dopaminergic transmission are particularly associated with HMDs. Tardive dyskinesia is an example of this phenomenon.

Patho-anatomy/physiology

The presence of an HMD suggests dysfunction in the motor control regions of the CNS, including the basal ganglia, cerebellum, thalamus, supplementary motor cortex, premotor cortex, and their pathways. Increasing recognition of the role of intrinsic sensory abnormalities, and the effects of external sensory input, is changing traditional notions of the pathophysiology of these disorders.12For example, functional abnormalities in the basal ganglia-sensorimotor network and cerebellothalmocortical pathways are implicated in dystonia. Maladaptive sensorimotor plasticity with lack of spatial and temporal specificity and loss of surround inhibition may occur.3

Disease progression including natural history, disease phases or stages, disease trajectory (clinical features and presentation over time)

Many HMDs are associated with progressive disability. Genetic and sporadic forms of ataxia often lead to falls and difficulty with activities of daily living (ADL). Tremors associated with neurodegenerative disorders often worsen over time, and can interfere with activities requiring both fine and gross motor control. Focal dystonia may be task-specific at onset, but often is triggered by less specific actions over time, and spread to adjacent regions may occur. PTD usually begins in childhood, starts in a limb (usually the leg), spreads to other body regions, and can be quite severe.Adult-onset PTD often remains focal or segmental. Huntington Disease (HD) generally progresses to include dementia, psychiatric disturbance, dysphagia and falls. Juvenile and end-stage adult-onset HD may present with prominent Parkinsonism.

Specific secondary or associated conditions and complications

Falls can occur secondary to severe chorea, myoclonus, ataxia, hyperkerplexia and dystonia. Joint contractures, pain, nerve compression, spondylosis, spinal cord compression, vascular compromise, dysphagia and visual compromise can complicate dystonia. Impulsivity, depression and dementia in HD can lead to injuries, suicide attempts and danger to others. Dysphagia leads to malnutrition and aspiration in some individuals with HD, ataxia, and dystonia.

2. ESSENTIALS OF ASSESSMENT

History

A careful history should focus upon identification of findings that might suggest the underlying etiology of the HMD, and should include gestation, early development, infections, exposures (toxic, environmental and pharmacologic), physical trauma, age at onset, rate and pattern of progression, distribution of symptoms, accompanying symptoms, co-morbidities, pregnancy status for women, family history, response to pharmacological interventions, and psychosocial factors. The functional impact of HMD-related symptoms should be assessed.

Physical examination

Examination is aimed at detailed characterization of the movements (e.g., distribution, rhythmicity, regularity, speed, suppressbility, duration, triggers) and identification of clues to the underlying etiology. Resting tremor occurs when a body part is fully relaxed, and is suggestive of Parkinson’s Disease (PD). Action tremor occurs during sustained posture (postural tremor) or while a body part is moving (kinetic, intention and task-specific). Immediate onset of tremor when the arms are outstretched is characteristic of ET, whereas the (re-emergent) postural tremor of PD is slightly delayed. ET- and PD-related tremors are regular and rhythmic, while dystonic tremor is usually arrhythmic and often increases with attempts to move away from the direction of involuntary muscle pull. Location of dystonia, presence of a sensory trick (a physical gesture or posture that temporarily suppresses the HMD), presence or absence with certain positions and movements, range of motion and co-existent tremor should be noted. Examination under anesthesia may help differentiate rigid dystonia from static joint contracture. Additional features, such as upper motor neuron findings, may offer clues to the underlying etiology of the HMD (e.g., stroke, or multiple sclerosis [MS]).

Functional assessment

Resting tremor does not interfere with function, but may cause psychological distress. Action tremor is best observed during attempts at a functional task (e.g., drinking or writing). Patients with blepharospasm should be queried about driving safety and other high-stakes, vision-dependent activities. Tic disorders frequently lead to social isolation. Social anxiety has also been shown to be high among patients with ET, CD and hemifacial spasm13and often needs to be addressed.

Laboratory studies

HMDs are diagnosed clinically. However, underlying metabolic, endocrine, immunologic and toxic etiologies may be excluded by tissue biopsies, blood work and CSF analysis. Paraneoplastic panels and genetic testing may be pursued in certain cases. Neuroimaging and electrodiagnostics are complementary.

Imaging

Brain MRI with contrast may be indicated to rule out structural abnormalities such as stroke or tumor (dystonia and ballism), demylinating lesions (dystonia, ataxia), vasculitis (chorea), and anoxic damage (myoclonus). Cervical MRI is indicated in cases of suspected CD to rule out a significant structural abnormalities. Further spinal imaging may be indicated to rule out structural abnormalities for suspected spinal and propriospinal myoclonus, abdominal dyskinesias and painful moving toes or hands.

Supplemental assessment tools

DatScan (dopamine transporter SPECT scan) may be useful in discriminating between ET and PD, and between dopamine-responsive-dystonia (DRD) and PD. Positron emission tomography is generally in research settings. EEG may be indicated for some forms of chorea and myoclonus. Diffusion tensor imaging is emerging as a powerful tool for understanding pathway alterations in movement disorders.

Early predictions of outcomes

Drug-induced HMDs may remit with weaning of the offending agent, but can be permanent. Early onset (< 26 years) of PTD in the leg predicts development of severe generalized dystonia. Late onset (>/= 26) PTD often begins in the neck, arm or face and generally remains focal or segmental.14Trinucleotide repeat disorders (e.g., HD, Friedrich ataxia) are often more severe and earlier in onset with increased repeat lengths.

Environmental

Toxic exposures are linked to some hyperkinesias. For example, tremor can be caused by nicotine, alchohol, carbon monoxide, lead, mercury, tolulene, DDT, naphthalene magnangese, lindan, arsenic, kepone, cyanide and dioxins.2

Social role and social support system

The severity of the movement disorder, and accompanying features, will impact the degree to which social roles will be altered as well as the need for additional support from others. Self-esteem may be adversely affected. National and local support groups provide education, access to research study participation and life management tips that may be helpful.

Professional Issues

A coordinated team approach including neurologists, physiatrists, physical therapists, occupational therapists, speech and language pathologists, rehabilitation psychologists and rehabilitation nurses may be indicated for ongoing management of severe progressive HMDs.

3. REHABILITATION MANAGEMENT AND TREATMENTS

Available or current treatment guidelines

No definitive rehabilitation guidelines are available for addressing the HMDs. However, the potential neuroprotective benefits of exercise in neurodegnerative conditions are well documented. Adaptive strategies (e.g., use of sensory tricks) and equipment (e.g., weighted utensils, gait aids) may be beneficial. Relaxation therapies (e.g., yoga, biofeedback) and avoidance of aggravating stimuli (e.g., caffeine, stressors) may decrease the frequency and severity of tremor, tics and dystonia. Regular stretching may prevent contractures in dystonia. Use of wheeled mobility may be indicated to enhance mobility and for safety reasons.

At different disease stages

Early- Sub-acute
Patient and family education are important for identifying symptoms, monitoring treatment response, secondary prevention efforts, goal-setting and expectation management. Rehabilitation therapies, adaptive strategies and exercise may be sufficient to manage early symptoms in most HMDs.

Chronic
Medical management becomes more intensive in chronic stages of most HMDs if symptoms interfere with quality of life and/or function. For example:

Botulinum toxin injection is useful for focal dystonia. Oral medications (e.g., anticholinergics, dopaminergics, dopamine depletors, GABA agonists) are of variable benefit. Tetrabenazine may improve tardive dystonia.3Intrathecal Lioresol may benefit generalized dystonia. Levodopa should be tried for childhood-onset generalized dystonia if a genetic defect is not already established.

Tetrabenazine is approved for HD-related chorea, and is useful in chorea from other etiologies. Typical and atypical antipsychotics are often used for psychiatric management and chorea. Valproate acid and carbamazepine are suggested for Sydenham chorea. Amantadine is used for levodopa-induced dyskinesias (LID) in Parkinson’s disease.

Deep brain stimulation (DBS) has shown benefit for multiple HMDs.

Preterminal
Secondary prevention of falls, aspiration, infections, malnutrition and skin sores becomes the primary focus of treatment. Behavioral management may be required. Hospice care should be considered.

Coordination of care

A team approach is indicated to identify and treat underlying medical causes, and provide rehabilitative and supportive care as indicated. National and community-based, disease-specific support groups may provide education, counseling, respite care, exercise classes and durable medical equipment.

Patient & family education

Decisions regarding genetic testing (whether for diagnosis or family planning) may be emotionally challenging and may have financial implications. Inclusion of a genetic counselor in these discussions is advisable. Hospice care may be recommended at terminal stages of progressive disorders.

Emerging/unique Interventions

There are numerous scales that are used to follow progression, impact or severity of hyperkinetic movement disorders.14,15,16,17,18For example:

Chorea Unified Huntington’s Disease Rating Scale
Dystonia The Toronto Western Spasmodic
Torticollis Rating Scale Tremor Tremor Rating Scale

Translation into practice: practice “pearls”/performance improvement in practice (PIPs)/changes in clinical practice behaviors and skills

Use of orthotics may be beneficial for joint protection, or to improve biomechanics in a dystonic limb. However, prolonged immobilization (such as with casting after a peripheral injury) has been associated with the development of focal and segmental dystonia.19,20

4. CUTTING EDGE/EMERGING AND UNIQUE CONCEPTS AND PRACTICE

Cutting edge concepts and practice

Deep brain stimulation is a treatment option in PD-related tremor and LID, ET, cerebellar outflow tremor of MS, Tourette syndrome, CD, PTD, HD, Holmes tremor, post-traumatic tremor, orthostatic tremor, tardive dyskinesia, hemiballism, myoclonus and neuroacanthocytosis. Cellular-based therapies and viral-vector based therapies are investigational.

5. GAPS IN THE EVIDENCE-BASED KNOWLEDGE

Gaps in the evidence-based knowledge

The pathways by which a wide array of potential triggers result in similar phenomenology for each of the HMDs is unknown. Studies of genetic abnormalities, advanced neuroimaging and neuropathological evidence may help elucidate the physiological and biochemical abnormalities that underlie the HMDs and yield more specific preventive and treatment strategies.

REFERENCES

1. Fahn S, Jancovic J.Principles and Practice of Movement Disorders. 1st ed. Philadelphia, PA: Churchill Livingstone/Elsevier; 2007.

2. Albanese A, Jankovic J. eds.Hyperkinetic Movement Disorders: Differential Diagnosis and Treatment. Blackwell Publishing, LTD; 2012.

3. Morgante F, Klein C. Dystonia.Continuum. 2013;19(5):1225-1241.

4. Comella C. Classification and evaluation of dystonia. UpToDate, Hurtig HI, Dashe JF, eds. 2013.

5. Kumar H, Jog M. Peripheral trauma-induced dystonia or post-traumatic syndrome?Canadian Journal of Neurological Science. 2011;38(1): 22-29.

6. Cardosa F, Seppi K, Mait, KJ, Wenning GK, Poewe W. Seminar on choreas.Lancet/Neurology. 2006;5:589-602.

7. Walker RH. Chorea.Continuum. 2013; [VOL #s?]:142-163.

8. deLau LML, Breteler MMB. Epidemiology of Parkinson’s disease.Lancet/Neurology. 2006; 5:525-535.

9. Defazio G, Abbruzzese G, Livera P, Berardelli A. Epidemiology of primary dystonia.Lancet/Neurology. 2004:3:673-678.

10. Morgan JC, Sethi KD. Drug-induced tremors.Lancet/Neurology. 2005;4:866-876.

11. Claxton KL, Chen JJ, Swope DM. Drug-induced movement disorders.Pharmacy Practice. 2007:20.6; 416-429.

12. Patel N, Jankovic J, Hallet M. Sensory aspects of movement disorders.Lancet/Neurology. 2014;13:100-112.

13. Ozel-Kizil ET, Akbostanci MC, Ozguven HD, Atbasoglu EC. Secondary social anxiety in hyperkinesias.Movement Disorders. 2008;23(5):641-645.

14. Schmitz-Hübsch T, Tezenas du Montcel S, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale.Neurology. 2006;66:1717-1720.

15. Consky ES, Lang AE. Clinical assessments of patients with cervical dystonia. In: Jankovic J, Hallett M, eds.Therapy with Botulinum Toxin. New York, NY: Marcel Dekker; 1994:211-237.

16. Burke RE, Fahn S, Marsden CD, Bressman SB, Moskowitz C, Friedman J. Validity and reliability of a rating scale for the primary torsion dystonias.Neurology. 1985;35:73-77.

17. Comella CL, Leurgans S, Wuu J, Stebbins GT, Chmura T. Rating scales for dystonia: a multicenter assessment.Mov Disord. 2003;18:303-312.

18. Huntington Study Group. Unified Huntington’s Disease Rating Scale: reliability and consistency.Movement Disorders. 1996;11(2):136-142.

19. Okun MS, Nadeau SE, Rossi F, Triggs WJ. Immobilization dystonia.Neurological Science. 2002;201(1-2):79-83.

20. Singer C. Papapetropoulos S. Lower limb post-immobilization dystonia in Parkinson’s disease.Neurological Science. 2005;239(1):111-114.

Author Disclosure

Heather R. Ene, MD
Nothing to Disclose

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