" A TWISTED FATE'' - DYSTONIA THE NEW TONE !!!!! - BY DR. VANDANA PATEL (PT)

  

 Dystonia is a disorder dominated by sustained muscle contractions, which often cause twisting and repetitive movements or abnormal postures.

   It is a persistent attitude or posture in one or the other of the extremes of athetoid movement, which is produced by co-contraction of agonist and antagonist muscles that place the limb in an unnatural position.

    Dystonia can vary considerably in severity and may show striking fluctuations in individual patients. In its early stages it may be interpreted as an annoying mannerism or hysteria, and only later in the face of persisting postural abnormality, lack of the usual psychologic features of hysteria and the emerging character of illness makes it obvious as dystonia.

    Dystonia may be limited to facial, cervical or trunk muscles or to those of one limb and it may cease when the body is in repose. Severe instances result in grotesque and distorted positions of the body; sometimes the whole musculature seems to be thrown into spasm by an effort to move an arm or to speak.

   The movements of dystonia tend to be slower than the rapid muscle jerks present in tic disorders. Dystonia characteristically exhibits a patterned movement with consistent posturing, unlike chorea, which produces rapid, unpredictable movement.

NEURO-PATHOLOGY:

    Focal brain lesions which produce dystonia are most commonly located in basal ganglia and thalamic target of the basal ganglia.

   The basal ganglia include the striatum (caudate, putamen, nucleus accumbens), the sub thalamic nucleus (STN), the globus pallidus [internal segment, external segment, ventral pallidum(VP)]. And substantia nigra (pars compacta and pars reticulata).

   Two primary pathways through basal ganglia from cerebral cortex are involved with the functions of Basal Ganglia.

Direct Pathway: Through striatum

Hyper-direct Pathway: Sub thalamic nuclei to Basal Ganglia output.

PHYSIOLOGY OF PRIMARY DYSTONIA:

1. Loss of inhibition at many levels of neuraxis
2. Agonist- antagonist contraction at the same time
3. Reciprocal inhibition
4. Surround inhibition  
5. Abnormal plasticity of the nervous system

SECONDARY DYSTONIA OR DYSTONIA PLUS SYNDROME can be because of the damage to the indirect pathways, caudate nucleus and putamen.

CLASSIFICATION OF DYSTONIA:

 Primary dystonia:

-Dystonia is the only sign without associated neurological findings.  

1.      Based on distribution

Classification	Areas of involvement	Examples
Focal	A single body area	Eye closure (blepharospasm), Neck-muscles(cervical dystonia), writer’s cramp(limb dystonia), vocal-cords(spasmodic dysphonia).
Segmental	Two contiguous body regions	Blepharospasm and lower face or jaw (Meige syndrome) Cervical dystonia and writer’s cramp
Generalised / both legs and trunk	One leg , trunk and one other body region	Childhood onset with spread
Multifocal	Two non-contiguous body regions	Blepharospasm and foot dystonia
Hemi -dystonia	Body regions on one side	Arm and leg on one side of the body

2. Genetic:

-DYT1: Onset typically in childhood with spread to become generalized dystonia. Gene isolated. Clinical testing is available.

-DYT2, 4, 7, 11, 13: No clinical testing available.          

3. Sporadic:

-No family history.

-Most adult-onset dystonia. Some may have genetic basis.

4.      Based on age of onset

Classification	Age
Childhood onset	Onset of symptoms at age <21
Adult onset	Onset of symptoms at age >21

  Secondary dystonia:

Associated with other hereditary neurologic syndromes.  

1. Dystonia Plus Dopa-responsive dystonia

2. Other inherited (degenerative) disorders

-         Autosomal-dominant

-         Rapid-onset dystonia-parkinsonism

-         Huntington's disease

-         Machado-Joseph's disease/SCA3 disease & Other SCA subtypes (SCA- spino cerebellar ataxia)

-         Familial basal ganglia calcifications

-         Autosomal-recessive

-         Wilson's disease 

3. Due to acquired/exogenous causes

-         Perinatal cerebral injury 

-         Encephalitis, infectious, and postinfectious

-         Head trauma

-         Pontine myelinolysis

-         Primary antiphospholipid syndrome

-         Stroke

-         Tumor

-         Multiple sclerosis

-         Cervical cord injury or lesion

-         Peripheral injury

-         Drugs

-         Toxins

-         Psychogenic

4.       Dystonia due to degenerative parkinsonian disorders

-         Parkinson Disease

-         Multiple system atrophy

-         Progressive supranuclear palsy

-         Cortico basal ganglionic degeneration

 

Other types:

·         X-Linked Dystonia-Parkinsonism (DYT3; Lubag's Syndrome)

·         Dopa-Responsive Dystonia (DYT5)

·         Rapid-Onset Dystonia Parkinsonism (DYT12)

·         Paroxysmal Kinesigenic Dyskinesia (DYT10)

·         Paroxysmal Dystonia/ Dyskinesia (DYT8)

·         DYT 2 & DYT 4

·         Myoclonus Dystonia (DYT11& DYT15)

·         Post-Traumatic Dystonia

·         Familial Paroxysmal Dyskinesia (DYT9)

·         Adolescent onset with mixed phenotype (DYT6)

·         Multifocal/Segmental Dystonia (DYT13)

·         Tardive Dystonia

PHYSICAL THERAPY TREATMENT STRATEGIES FOR DYSTONIA:

There have been an increased number of publications showing that physical therapy and rehabilitation procedures have an important role in the care of patients with dystonia.

For writer’s cramp:

1. Trans-cutaneous Electrical Nerve stimulation caused a significant beneficial effect when given on forearm flexor muscles in one randomized, double blind placebo controlled cross over study. Ten sessions of 15 minutes in 2 weeks were able to improve some objective and subjective aspects of writing performance, although no change was seen on writing disability score.
2. Ranawaya et al. used a tripod writing device leads to subjective improvement of dystonic symptoms in 75% of patients and of legibility in 25%. However, 50% of the patients didn’t consider the writing aid to be useful.
3. Schenk et al. used individually tailored writing exercises and techniques to produce more comfortable and legible handwriting such as scribbling letters, small words to improve wrist finger coordination and movement fluency techniques were given for once weekly session for 4 months which showed improvement in patients with writer’s cramp.
4. EMG Biofeedback has also been studied in Writer’s cramp and was found to be effective in majority of studies.

     -    One study in 10 patients used auditory EMG feedback on large proximal muscles of the dystonic arm and showed a sustained improvement after 6 months with a decrease in pain and discomfort and increase in legibility of hand writing.

5. Motor Retraining therapies in one study of 10 patients in which motor exercises of one finger was given while the other four were immobilized by a splint for a period of 4-12 weeks which showed highly variable subjective improvement assessed by a self rating scale was observed in 6 of 10 patients.
6. More recent studies have tried to focus on patho-physiological concept in writer’s cramp; which suggest that it results from sensory dysfunction which leads to erroneous sensory motor integration and inadequate motor planning. Sensory discrimination is found to be effective in this kind of presentation of dystonia.

Other treatment strategies:

1. Well fitted braces are designed primarily to improve posture and to prevent contractures.
2. A variation of immobilization therapy, Constrained Induced Movement Therapy has been used successfully in rehabilitation of dystonia but conflicts still exist. Five professional musicians (three pianists and two guitarists) with long-standing symptoms were studied; they had previously received several treatments without success. The current therapy involved immobilisation by splint of one or more of the digits other than the focal dystonic finger. The focal dystonic finger was required to carry out repetitive exercises in coordination with one or more of the other digits for 1·5–2·5 h daily (depending on patient fatigue) over a period of 8 consecutive days under therapist supervision. The patients subsequently continued practising the exercises with the splint for 1 h a day at home in combination with progressively longer periods of repertoire practice without the splint. Patient status was quantified with two measurement instruments: a dexterity/displacement device which continuously recorded digital displacement during metronome-paced movements of two fingers (spectral analysis of the records provided information concerning the smoothness of the movements before, during, and after training); and a dystonia evaluation scale (DES) in which the patients rated how well they were performing (without the splint) movement sequences and passages from their repertoire that had tended to generate dystonic movements in the past. All patients showed improvement without the splint at the end of treatment.
3. Repetitive Trans-cranial Magnetic Stimulation delivered at low frequency (≤ 1 Hz) for 20 minutes is found to be effective.
4. Positioning of part of limb in less stressed position.
5. Passive Myo-fascial Elongation manoeuvres.
6. Stretching and strengthening exercises.
7. Deep massage in case of cervical dystonia especially has shown positive results.

8. Combined rehabilitation program in addition to Botulinum toxin injections has recently been demonstrated in a cross over study of 40 cervical dystonia patients. The rehabilitation program consisted of daily sessions of physical therapy such as passive myofascial elongation maneuvers, deep massage of cervical muscles, stretching to increase range of motion, and strengthening exercises with biofeedback for 60 to 90 minutes during 2 weeks, following BoNT-A injections. The patients were crossed over after a period of 45 to 120 days depending on the subjective clinical benefits and the EMG activity in comparison to baseline. Analysis showed that the BoNT-A plus rehabilitation program group had a longer duration of the clinical BoNT-A effect and that they needed a lower dose of BoNT-A at reinjection. In addition, they showed more marked reductions in their disability in daily activities and subjective pain scores.

9.  Leplow demonstrated the positive effect of acoustic biofeed back as part of an extensive behavioural training program aimed at reducing pathological activity in hypertrophied sternocleidomastoid  muscle over non feedback in a within patient design and the improvement persisted during the session.

Stress Management

Elements of stress management may be incorporated into a physical therapy program and relaxation exercises may be tailored to address specific motor problems.

Relaxation techniques may vary from deep breathing, visualization, and progressive muscle relaxation to local and generalized stretching. Stress management may also mean taking more time for leisurely activities. Yoga or a soft martial art such as Tai Chi may increase fitness and relaxation simultaneously. Meditation can create a mental refuge from stress and aggravation.

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REFERENCES:

1.       Hand book of dystonia - By Mark A. Stacy.

2.      Clinical diagnosis and management of Dystonia- By Thomas T warner & Susan B Bressman.

3.      Bradley's neurology in clinical practice. – By Daroff, R. B., & Bradley, W. G. (2012), Philadelphia, PA: Elsevier/Saunders.

4.      Clinical Neurology by world federation of neurology on Dystonia.

5.      Jabusch H, Zschucke D, Schmidt A, Schuele S, Altenmüller E. Focal dystonia in musicians: Treatment strategies and long-term outcome in 144 patients. Movement Disorders. 2005;20(12):1623-1626.

6.      Delnooz C, Horstink M, Tijssen M, van de Warrenburg B. Paramedical treatment in primary dystonia: A systematic review. Movement Disorders. 2009;24(15):2187-2198.

7.      Candia V, Schäfer T, Taub E, Rau H, Altenmüller E, Rockstroh B et al. Sensory motor retuning: A behavioral treatment for focal hand dystonia of pianists and guitarists. Archives of Physical Medicine and Rehabilitation. 2002;83(10):1342-1348.

8.     Priori A, Pesenti A, Cappellari A, Scarlato G, Barbieri S. Limb immobilization for the treatment of focal occupational dystonia. Neurology. 2001;57(3):405-409.

9.      Schenk T, Bauer B, Steidle B, Marquardt C. Does training improve writer’s cramp? An evaluation of a behavioral treatment approach using kinematic analysis. J Hand Ther 2004;17:349– 363.

10.  Leplow B. Heterogeneity of biofeedback training effects in spasmodic torticollis: a single-case approach. Behav Res Ther 1990;28:359–365.

11.   Ranawaya R, Lang A. Usefulness of a writing device in writer’s cramp. Neurology 1991;41:1136–1138.

12.   Baur B, Schenk T, Furholzer W, et al. Modified pen grip in the treatment of Writer’s Cramp. Hum Mov Sci 2006;25:464–473.

13.  Deepak K, Behari M. Specific muscle EMG biofeedback for hand dystonia. Appl Psychophysiol Biofeedback 1999;24:267– 280.

14.  Tinazzi M, Farina S, Bhatia K, et al. TENS for the treatment of writer’s cramp dystonia: a randomized, placebo-controlled study. Neurology 2005;64:1946–1948.

15.   Candia V, Schafer T, Taub E, et al. Sensory motor retuning: a behavioral treatment for focal hand dystonia of pianists and guitarists. Arch Phys Med Rehabil 2002;83:1342–1348.