Understanding dystonia: diagnostic issues and how to overcome them

Camargos, Sarah; Cardoso, Francisco

doi:10.1590/0004-282X20160140

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VIEWS AND REVIEWS • Arq. Neuro-Psiquiatr. 74 (11) • Nov 2016 • https://doi.org/10.1590/0004-282X20160140 copy

Understanding dystonia: diagnostic issues and how to overcome them

Compreendendo a distonia: questões diagnósticas e como superá-las

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

The diagnosis and treatment of dystonia are challenging. This is likely due to gaps in the complete understanding of its pathophysiology, lack of animal models for translational studies, absence of a consistent pathological substrate and highly variable phenotypes and genotypes. The aim of this review article is to provide an overview of the clinical, neurophysiological and genetic features of dystonia that can help in the identification of this movement disorder, as well as in the differential diagnosis of the main forms of genetic dystonia. The variation of penetrance, age of onset, and topographic distribution of the disease in carriers of the same genetic mutation indicates that other factors – either genetic or environmental – might be involved in the development of symptoms. The growing knowledge of cell dysfunction in mutants may give insights into more effective therapeutic targets.

dystonia; apoptosis

Variable	Cause	Pitfalls	Distinguishing feature
Other movement disorders	Tremor	Tremor associated to dystonia	Tremor happens in another body part affected by dystonia and there is no directional predominance of the movement
	Chorea	Rhythmic and oscillatory movements	Unpredictability
	Myoclonus	Jerk-like movements resembling dystonic tremor	EMG shows myoclonic features
	Tics	Dystonic tics	Frequently associated with premonitory sensation and relief after performance. Changeable over time.
Systemic disorders	Sandifer syndrome	Opisthotonic posturing mainly involving the neck, back, and upper extremities	Spasms occurring after feeding with pain. Videotelemetry confirms.
	Stiff person	Axial rigidity and stiffness superimposed by spasms caused by continuous firing of the peripheral nerve axons	EMG: continuous motor unit activity with normal morphology.
	Rheumathoid arthritis, juvenile idiopathic arthritis, and juvenile rheumatoid arthritis	Non traumatic anteroposterior atlanto-axial subluxation	Stiffness, pain and limited movement plus inflammatory signs (swollen, red or warm) joints
Orthopedic	Atlanto axial subluxation	Loss of range of motion and increased muscle tone due to dislocation of a joint and atlanto-axial rotatory misalignment	RX: Distance between the anterior aspect of the dens and posterior aspect of the anterior arch of the atlas is more than 3 mm
Orthopedic	Congenital muscular torticollis	Unilateral shortening of the sternocleidomastoid muscle that is detected at birth or after birth	Neck ultrasonography confirms the existence of the neck mass or hypertrophy of the sternocleidomastoid muscle
Peripheral disorders (muscle, ligaments, vessels and bones)	Isaacs syndrome (Neuromyotonia)	Muscle cramps, stiffness and delayed muscle relaxation.	EMG: grouped and complex discharges of motor units
	Myopathy	Proximal myopathy with dropped neck	Cervical paraspinal weakness that results in passively and correctable chin on chest deformity
	Soft nuchal mass/ Ligamentous damage	Space occupying lesion causing neck deviation	Cervical bulging
	Arteriovenous fistula at the craniocervical junction (or elongated vertebral artery loop and dilatation of vertebral artery)	Compression of accessory nerve, meningeal irritation and change in bone supply affecting vestibular nuclei complex causing torticollis	MRI reveals vascular malformation at the craniocervical junction. Other symptoms may follow the attacks of torticollis: headache, drowsiness, papilledema, corticobulbar or corticospinal signs
	Grisel’s syndrome	Subluxations of the atlantoaxial joint from inflammatory ligamentous laxity following an infectious process	RX reveals subluxation. Radicular and medullar signs can occur
Central disorders	Epilepsy	Intermittent tonic contractions	EEG shows epileptiform abnormalities
	Arnold Chiari malformation	Intermittent and unusual neck posturing usually associated	Usually associated with posterior fossa dysfunction signs and pain
	Posterior fossa tumor	Intermittent head tilt or twist associated with vomiting and headache	Other neurological signs such as increased intracranial pressure and localizing signs. Torticollis can be the first sign of central nervous system tumor. Brain image reveals the diagnosis
Oculo-vestibular	Troclear nerve palsy/ Lateral rectus palsy/ Vestibular torticollis	Abnormal head posture adopted to improve visual acuity and maintain binocular single vision	Eye deviation with strabismus.

Study	Drug	Design	n/time	Outcome	Result
Jankovic, 1982⁷⁷	Tetrabenazine in hyperkinetic movement disorder	RDBPCCT	19/3wk	Clinical assessment	Improvement in all 4 tardive dyskinesia, 4 of 6 Meige, 5 of 6 other dystonias
Lang et al., 1982⁷⁸	IV Atropine, Benztropine and Chlorpheniramine in focal dystonias	Drug versus placebo	20	Clinical assessment	No improvement
Nutt et al., 1984⁷⁹	Trihexyphenydil, Tridihexethyl in cranial dystonia	RDBPCCT	9/6wk	Clinical assessment	Only one patient improved
Quinn et al., 1985⁸⁰	Lisuride in several dystonia types	RDBPCCT*	42/2wk	Clinical assessment	8 patients improved
Nutt et al., 1985⁸¹	Lisuride in focal dystonia	RDBPCCT	9pt/12wk	Clinical assessment	Mild and transient improvement in 6 patients
Newman et al., 1985⁸²	Bromocriptine	RDBPCCT	13pt/7 wk	Clinical assessment	7 improved mores than 10%, 2 worsend and 5 had disability improvement
Burke et al., 1986⁸³	Trihexyphenydil	RDBPCCT	31/36wk	Fahn Marsden scale	Significant response in 71% of patients; 42% dramatic response after 2,4years
Carella et al., 1986⁸⁴	Gamma-vynil Gaba	RCCT	6/2wk	Dystonia severity scale, dystonia disability scale and dystonia muscle assessment	No benefits
Thaker el al., 1990⁸⁵	Clonazepam	RCCT	19/12 wk	Dyskinesia rating	Improvement (35% decrease) especially in dystonic prominent patients
Brans et al., 1996⁸⁶	Botulinun toxin X trihexyphenidyl in CD	RCT	66/12 wk	TWTRS, Tsui scale	BTA is more effective than trihexyphenidil with less side effects
Ransmayr et al., 1988⁸⁷	IV Biperiden, clonazepam, haloperidol and lisuride in Meige	PCT	15	Clinical assessment	Improvement with IV clonazepan and biperiden
Braun et al., 1989⁸⁸	SKF39393 (D1 dopamine agonist) in hyperkinetic md	DBPCT	3 /2wk	Abnormal involuntary movement scale	No improvement
Meythaler et al., 1999⁸⁹	Intrathecal baclofen in secondary dystonia due to traumatic brain injury	PCT	17/1 year	Ashworth rigidity scores, spasm scores, and deep tendon reflex score	Reduction in spasticity and dystonia
Grañana et al., 1999⁹⁰	Diphenhydramine	RCT	7/6mo	University of Columbia scale	significant improvement, mild to moderate side effects
Rice et al., 2009⁹¹	Trihexyphenidyl in children with cerebral palsy	RCCT	16/28 wk	Barry-Albright Dystonia scale; Quality of Upper Extremity Skills Test, Canadian Occupational Performance Measure, and Goal Attainment Scale	no significant effect
Zadikoff et al., 2011⁹²	Dronabinol in CD	RCCT*	9/8wk	TWSTRS, Visual analogic scale of pain, Global impression of change	no significant effect
Bonouvrié et al., 2013⁹³	Intrathecal baclofen in dystonic cerebral palsy	Multicenter RDBCT	30/3 mo	Goal Attainment Scaling	no results yet
Pozin et al., 2014⁹⁴	Levodopa in dystonic cerebral palsy	RCCT	9pt/2wk	Upper limb functional performance	no response

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[1] Correspondence: Francisco Cardoso; Av Pasteur 89/1107; 30150-290 Belo Horizonte MG, Brasil; E-mail: cardosofe@terra.com.br