athetosis and dystonia

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Clinical approach to Dystonia


  • 1.ATHETOSIS AND DYSTONIA Dr PS Deb MD, DM Director Neurology GNRC Hospitals ,Guwahati Assam , India

2. ATHETOSIS Irregular, slow, forceful writhing movement, generally of extremities, very often characterized by finger movement. Associated Rigidity due to corticospinal involvement Hypotonia - choreoathetosis Pattern of movement Flexion extension, supination pronation of hand and finger Eversion inversion of foot, Retraction and pursing of lips Twisting of neck Winking and relaxation of face Rate: slow to rapid like chorea Voluntary movement slow due to overflow of spasm to antagonist. 3. PATHOPHYSIOLOGY Denny Brown: Medial frontal lesion grasp Lateral parietal lesion avoidance reaction A sequence of grasp and avoidance reaction athetosis Corticospinal relay station in putamen is damaged Athetoid movements are unstable rivalry of grasping and avoiding reactions, released by the loss of frontal and parietal lobe inhibition through the putaminal lesion Athetosis is peculiar reaction of childhood, rarely seen in brain damaged adult. Infantile brain has the ability to employ a variety of motor pathway in an attempt to replace those destroyed by disease. 4. PATHOPHYSIOLOGY CONT.. 1. Lack of reciprocal inhibition by striatum and co- contraction of antagonist overflow 2. Grasping pattern of impulse in EMG 3. Fluctuation of tone in the affected muscle during movement Similar to dystonia, athetosis and dystonia are closely related. Use of one term rather the other is more a matter of situation and semantics than different movements. Choric movement may be associated or follow one other (attempted voluntary movement tonic contraction of antagonistic muscle 5. AETIOLOGY: ATHETOSIS Childhood (double athetosis) Anoxic brain damage Kernicterus Post encephalitic Status mormorotus usually acquired lesion Status dysmylinatous Hallivordon Spatz disease Pheylketonuria Hyperuricemia (Leih Nyhan) Progressive pallidal atrophy Pelzius Merzbacker disease Diffuse cerebral sclerosis Tuberous sclerosis Adult (double athetosis) Wilsons disease and other hepatolenticular disease Huntingtons chorea Anoxic encephalopathy, CO poisoning Phenothiazine and L dopa Hemiathetosis in childhood Same as above Birth trauma Asphyxia Neonatal infection Exenthema Dyphtheria C. embolism Hemiathetosis in adult Vascular accident Infection Encephalitis TB, Syphilis Thalamic glioma Trauma Presenile dementia 6. DYSTONIA Distorted state of movement due to abnormality of tone of skeletal muscle, most frequently occurring as hypertonia without evidence of pyramidal tract involvement. Oppenheim and Vogats 1911 Abnormality of any attitude owing to sustained muscle contraction Danny Brown Flexion dystonia of Parkinsonism Spastic dystonia of hemiplegia, paraplegia Torsion dystonia Segmental dystonia Decerebrate rigidity 7. DEFINITION Dystonia is slow, long sustained contracting movements and posture involving mainly the proximal appendicular and axial muscle. St. Fahn 1976 The movements are generally slow but may be rapid termed as dystonic spasm. Dystonic spasm may be repetitive, jerky and even tic like (sustained for more than 1sec) Dystonia is a syndrome of sustained muscular contraction frequently causing twisting and repetitive movement of abnormal posture Ad.hoc committee: Scientific advisory board of the dystonia research foundation 1984 8. MOTOR PHENOMENOLOGY RELEVANT TO DYSTONIA Voluntary action Purposeful, anticipated, goal-directed movement produced by will. Dystonia is typically influenced by voluntary movement or voluntarily maintained posture, as in antigravity support. Dystonic tremor A spontaneous oscillatory, rhythmical, although often inconstant, patterned movement produced by contractions of dystonic muscles often exacerbated by an attempt to maintain primary (normal) posture. The dystonic tremor may not be relieved by allowing the abnormal dystonic posture to fully develop without resistance (null point). Dystonic tremor may be difficult to distinguish from essential-type tremor.39,45 9. MOTOR PHENOMENOLOGY RELEVANT TO DYSTONIA CONT.. Overflow Motor overflow commonly found in dystonia is unintentional muscle contraction which accompanies, but is anatomically distinct from the primary dystonic movement.46,47 It commonly occurs at the peak of dystonic movements. Mirror dystonia Mirror dystonia is a unilateral posture or movement that is the same or similar in character to a dystonic feature that can be elicited, usually in the more severely affected side, when contralateral movements or actions are performed.47 Alleviating maneuvers (sensory tricks or gestes antagonistes ) Voluntary actions that specifically correct the abnormal posture or alleviate the dystonic movements. These are usually simple movements (gestes) involving, or directed to, the body region affected by dystonia,23 but not consisting in a forceful opposition to the phenomenology of dystonia. 10. PSEUDODYSTONIAS Dystonic (tonic) tics Head tilt (vestibulopathy, trochlear nerve palsy) Bent spine, camptocormia, scoliosis Atlanto axial and shoulder subluxation Arnold-Chiari malformation Soft tissue neck mass Congenital muscular torticollis Congenital Klippel-Feil syndrome Satoyoshi syndrome Dupuytrens contractures Trigger digits Neuromuscular causes (Isaacs syndrome, etc.) Spasms (hypocalcemia, hypomagnesemia, alkalosis) Orthopedic and rheumatological causes Sandifer syndrome Deafferentiation (pseudoathetosis) 11. NEW DEFINITION : MOVEMENT DISORDER SOCIETY 2013 Dystonia is 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. 12. DYSTONIA NEW CLASSIFICATION 13. DYSTONIA NEW CLASSIFICATION 14. PATHOLOGY Not consistent Putamen, Globus Pallidus (GP), Subthalamus (ST), Caudate Nucleus (CN) GABA in putamen and GP reduced In monkey electrolytic lesion of putamen or GP dystonia (Denny Brown ) Intracuadal injection of carbacol eliciting dystonic torticolis in monkey 15. TYPES Generalized Segmental Focal Action Muscular cramp Writers cramp Oromandibuar dystonia Spasmodic dysphonia 16. AETIOLOGY: PRIMARY HEREDITARY Symbol OMIM Gene Locus Alt Name DYT1 128100 TOR1A 9q34 Early-onset torsion dystonia DYT2 224500 unknown unknown Autosomal recessive torsion dystonia DYT3 314250 TAF1 Xq13 X-linked dystonia-parkinsonism DYT4 128101 TUBB4[3] 19p13.12-13 Autosomal dominant whispering dysphonia DYT5a 128230 GCH1 14q22.1-q22.2 Autosomal dominant dopamine-responsive dystonia DYT5b 191290 TH[disambiguation needed] 11p15.5 Autosomal recessive dopamine-responsive dystonia DYT6 602629 THAP1 8p11.21 Autosomal dominant dystonia with cranio- cervical predilection DYT7 602124 unknown 18p (questionable) Autosomal dominant primary focal cervical dystonia DYT8 118800 MR1 2q35 Paroxysmal nonkinesigenic dyskinesia DYT9 601042 SLC2A1 1p35-p31.3 Episodic choreoathetosis/spasticity (now known to be synonymous with DYT18) DYT10 128200 PRRT2 16p11.2-q12.1 Paroxysmal kinesigenic dyskinesia 17. AETIOLOGY: PRIMARY HEREDITARY DYT11 159900 SGCE 7q21 Myoclonic dystonia DYT12 128235 ATP1A3 19q12-q13.2 Rapid onset dystonia parkinsonism and alternating hemiplegia of childhood DYT15 607488 unknown 18p11[5] Myoclonic dystonia not linked to SGCE mutations DYT16 612067 PRKRA 2q31.3 Autosomal recessive young onset dystonia parkinsonism DYT17 612406 unknown, near D20S107[6] 20p11.2-q13.12 Autosomal recessive dystonia in one family DYT18 612126 SLC2A1 1p35-p31.3 Paroxysmal exercise-induced dyskinesia DYT19 611031 probably PRRT2 16q13-q22.1 Episodic kinesigenic dyskinesia 2, probably synonymous with DYT10 DYT20 611147 unknown 2q31 Paroxysmal nonkinesigenic dyskinesia 2 DYT21 614588 unknown 2q14.3-q21.3 Late-onset torsion dystonia DYT23 610110 ANO3[7] 11p14.2 Autosomal dominant cranio-cervical dystonia with prominent tremor 18. HEREDITARY DYSTONIA - AD Type Clinical Features Epidemiology Age of Onset Dystonia 1. Dystonia musculorum deformans; idiopathic torsion dystonia; Oppenheim's dystonia Dystonia may present as focal dystonia, usually in the limbs; often generalizes especially if early-onset 50% of early-onset dystonia in non-Jews, 90% in Jews; prevalence of 1:10000-1:15000 in non-Jews, 1:3000- 1:5000 in Jews Usually childhood, may be later (most


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