Idiopathic dystonia clinical, profile of 76 brazilian patients

Andrade, Luiz A. F.; Ferraz, Henrique B.

doi:10.1590/S0004-282X1992000400003

Abstracts

Dystonia may be classified by age of onset (childhood, adolescence, adult onset), body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized) and etiology (idiopathic and symptomatic). We studied 76 patients with idiopathic dystonia among 122; cases of dystonic syndrome (62.3% of the total). There were 48 female and 28 male patients. Adult-onset focal dystonia was the most frequent feature (37 patients). The onset of generalized dystonia was more frequently seen under the age of 20, whereas focal and segmental dystonia usually started over this age. Postural tremor of the hands was observed in 19.7% of the patients. Spasmodic torticollis was the most prevalent form of dystonia overall. Except for writer's cramp, which occurred more frequently in males, and generalized dystonia, which was equally divided between sexes, all other forms were more frequent in females. Our data suggest that differences in racial origin, social and economical status and environmental factors do not account for a different manifestation in dystonia pattern.

dystonia; dystonia musculorum deformans; idiopathic dystonia

A distonia pode ser classificada de acordo com a idade de início (infância, adolescência e idade adulta), distribuição corporal dos movimentos anormais (focal, segmentar, unilateral, multifocal e generalizada) e etiologia (idiopática e sintomática). Dentre 122 pacientes com o diagnóstico de síndrome distônica, estudamos 76 com quadros idiopáticos (62,3% do total). Havia 48 pacientes do sexo feminino e 28 do sexo masculino. O quadro mais frequentemente observado foi a da distonia focal iniciada na idade adulta. (37 pacientes). Havia 6 pacientes com distonia generalizada e o início desse quadro foi mais frequento abaixo dos 20 anos de idade. Quadros focais e segmentares predominaram e foram mais comumentemente iniciados na idade adulta. Tremor postural das mãos foi observado em 15 pacientes (19,7%). De todas as formas de distonia, o torcicolo espasmódico foi a que prevaleceu. Com a exceção da cãimbra do escrivão (com mais homens que mulheres acometidas) e da distonia generalizada (a mesma proporção entre os sexos), o sexo feminino predominou sobre o masculino. Nossos dados são semelhantes aos de outras séries que estudaram o quadro clínico da distonia idiopática. Assim, diferenças raciais, ambientais e sócio-econômicas não parecem ser determinantes: no padrão de manifestação da distonia idiopática.

distonia; dystonia musculorum deformans; distonia idiopática

Idiopathic dystonia clinical, profile of 76 brazilian patients

Distonia idiopática: perfil clínico de 76 pacientes brasileiros

Luiz A. F. Andrade^I; Henrique B. Ferraz^II

^IAssociate Professor of Neurology. Sector for Investigation of Extrapyramidal Diseases, Department of Neurology and Neurosurgery, Escola Paulista de Medicina, São Paulo

^IIPostgraduate in Neurology. Sector for Investigation of Extrapyramidal Diseases, Department of Neurology and Neurosurgery, Escola Paulista de Medicina, São Paulo

SUMMARY

Dystonia may be classified by age of onset (childhood, adolescence, adult onset), body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized) and etiology (idiopathic and symptomatic). We studied 76 patients with idiopathic dystonia among 122; cases of dystonic syndrome (62.3% of the total). There were 48 female and 28 male patients. Adult-onset focal dystonia was the most frequent feature (37 patients). The onset of generalized dystonia was more frequently seen under the age of 20, whereas focal and segmental dystonia usually started over this age. Postural tremor of the hands was observed in 19.7% of the patients. Spasmodic torticollis was the most prevalent form of dystonia overall. Except for writer's cramp, which occurred more frequently in males, and generalized dystonia, which was equally divided between sexes, all other forms were more frequent in females. Our data suggest that differences in racial origin, social and economical status and environmental factors do not account for a different manifestation in dystonia pattern.

Key words: dystonia, dystonia musculorum deformans, idiopathic dystonia.

RESUMO

A distonia pode ser classificada de acordo com a idade de início (infância, adolescência e idade adulta), distribuição corporal dos movimentos anormais (focal, segmentar, unilateral, multifocal e generalizada) e etiologia (idiopática e sintomática). Dentre 122 pacientes com o diagnóstico de síndrome distônica, estudamos 76 com quadros idiopáticos (62,3% do total). Havia 48 pacientes do sexo feminino e 28 do sexo masculino. O quadro mais frequentemente observado foi a da distonia focal iniciada na idade adulta. (37 pacientes). Havia 6 pacientes com distonia generalizada e o início desse quadro foi mais frequento abaixo dos 20 anos de idade. Quadros focais e segmentares predominaram e foram mais comumentemente iniciados na idade adulta. Tremor postural das mãos foi observado em 15 pacientes (19,7%). De todas as formas de distonia, o torcicolo espasmódico foi a que prevaleceu. Com a exceção da cãimbra do escrivão (com mais homens que mulheres acometidas) e da distonia generalizada (a mesma proporção entre os sexos), o sexo feminino predominou sobre o masculino. Nossos dados são semelhantes aos de outras séries que estudaram o quadro clínico da distonia idiopática. Assim, diferenças raciais, ambientais e sócio-econômicas não parecem ser determinantes: no padrão de manifestação da distonia idiopática.

Palavras-chave: distonia, dystonia musculorum deformans, distonia idiopática.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Acknowledgments  We thank to CNPq, and FINEP for partial financial support of this study.

Dr. Luiz Augusto Franco de Andrade Rua Borges Lagoa 1231, Conj. 44 - 04038 São Paulo SP - Brasil.

1. Baxter DW, Lal S. Essential tremor and dystonic syndromes. Adv. Neurol 1979, 24 :373-377.
2. Blitzer A, Brin MF, Lovelace RE, Fahn S. Clinical and laboratory characteristics of focal laryngeal dystonia: study of 110 cases. Laryngoscope 1988, 98:636-640.
3. Bressman SB, De Leon, D, Brin MF, Risen N, Burke RE, Greene PE, Shale H, Fahn S. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neuro 1989, 26:612-620.
4. Burke RE, Brin MF, De Leon D, Bressman SB, Fahn S. Comparison of the clinical course of the Jewish and non-Jewiseh juvenile onset familial torsion dystonia. Neurology 1989, 39 (suppl 1):188.
5. Burke RE, Fahn S, Marsden CD. Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl. Neurology, 1986, 36 :160-164.
6. Burton K, Farrel K, Li D, Calne DB. Lesions of the putamen and dystonia: CT and magnetig resonance imaging. Neurology 1984, 34:962-965.
7. Fahn S. High dosage anticholinergic therapy in dystonia. Neurology 1983, 33 :1255-1261.
8. Fahn S. Generalized dystonia: concept and treatment. Clin Neuropharmacology 1986, 9 (suppl 2) :S37-S48.
9. Fahn S. Concept and classification of dystonia. Adv Neurol 1988, 50:1-8.
10. Fahn S. Clinical variants of idiopathic torsion dystonia. J Neurol Neurosurg Psychiatry 1989, (Special Suppl) : 96-100.
11. Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. In Marsden CD, Fahn S (eds): Movement Disorders 2. London: Butterworths, 1987, p 332-358.
12. Ferraz HB, Andrade LAF. Symptomatic dystonia: clinical profile of 46 Brazilian patients. Can J Neurol Sei (in press).
13. Friedman A, Fahn S. Spontaneous remissions in spasmodic torticollis. Neurology 1986, 36 :398-400.
14. Fross RD, Martin WRN, Ii D, Stoessl AJ, Adam MJ, Ruth TJ, Pate BD, Burton K, Calne DB. Lesions in the putamen: their relevance to dystonia. Neurology 1987, 37 :1125-1129.
15. Gauthier S. Idioptathic spasmodic torticollis: pathophysiology and treatment. Can J Neurol Sci 1986, 13:88-90.
16. Greene P, Fahn S. Patterns of spread of dystonia in childhood onset dystonia. Neurology 1987, 37 (suppl 1) : 269.
17. Greene P, Shale H, Fahn S. Analysis of open-label trials in torsion dystonia using high dosages of anticholinergics and other drugs. Mov Dis 1988, 3:46-60.
18. Hornykiewcz O, Kish SJ, Becker LE, Farley J, Shannak K. Brain neurotransmitters in dystonia musculorum deformans. N Engl J Med 1986, 315:347-353.
19. Jankovic J, Orman J. Botulinum: a toxin for cranial-cervical dystonia: a double-blind, placebo-controlled study. Neurology 1987, 37:616-623.
20. Jankovic J, Svendsen CN, Bird ED. Brain neurotransmitters in dystonia. N Engl J Med 1987, 316:278-279.
21. Lee RG. The pathophysiology of essential tremor. In Marsden CD, Fahn S (eds): Movement Disorders 2. London: Butterworths, 1987, p 423-437.
22. Lockwood AH. Medical problems of musicians. N Engl J Med 1989, 320:221-227.
23. Lowenstein DH, Aminoff MJ. The clinical course of spasmodic torticollis. Neurology 1988, 38:530-532.
24. Marsden CD. The problem of adult-onset idiopathic torsion dystonia and other isolated dyskinesias in adult life (including blepharospasm, oromandibular dystonia, dystonic writer's cramp, and torticollis or axial dystonia). Adv. Neurol 1976, 14 :259-276.
25. Marsden CD. Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome): a variant of adult-onset dystonia? J Neurol Neurosurg Psychiatry 1976, 39 :1204-1209.
26. Marsden CD. The focal dystonias. Clin Neuropharmacol 1986, 9 (suppl 2) :S49-S60.
27. Marsden CD, Harrison MJG. Idiopathic torsion dystonia (dystonia musculorum deformans): a review of forty-two patients. Brain 1974, 97:793-810.
28. Marsden CD, Harrison MJG, Bundey S. Natural history of idiopathic torsion dystonia. Adv Neurol 1976, 14:177-186.
29. Marsden CD, Obeso JA, Zarranz JJ, Lang AB. The anatomical basis of symptomatic hemi-dystonia. Brain 1985, 108:463-483.
30. McDaniel KD, Cummings JL, Shain S, The «yips»: a focal dystonia of golfers. Neurology 1989, 39:192-195.
31. Nutt JG, Muenter MD, Melton LJ III, Aronson A, Kurland LT. Epidemiology of dystonia in Rochester, Minnesota. Adv Neurol 1988, 50:361-365.
32. Oppenheim H. Über eine eigenartige Krampfkrankheit des kindlichen und jugendlichen Alters( dysbasia lordotica progressiva, dystonia musculorum deformans). Neurol Zentralbl 1911, 30:1090-1107.
33. Parker N. Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry 1985, 48 : 218-224.
34. Rosenbaun F, Jankovic J. Focal task-specific tremor and dystonia: categorization of occupational movement disorders. Neurology 1988, 38 :522-527.
35. Yanagisawa N, Goto A, Narabayashi H. Familial dystonia musculorum deformans and tremor. J Neurol Sei 1972, 16:125-136.
36. Zeman H, Kaelbling R, Pasamanick B. Idiopathic dystonia musculorum deformans: II. The formes frustes. Neurology 1960, 10:1068-1075.
37. Zweig RM, Hedreen JC, Jankel WR, Casanova MF, Whitehouse PJ, Price DL. Pathology in brainstem regions of individuals with primary dystonia. Neurology 1988, 38:702-706.

Publication Dates

Publication in this collection
22 Feb 2011
Date of issue
Dec 1992

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Baxter DW, Lal S. Essential tremor and dystonic syndromes. Adv. Neurol 1979, 24 :373-377.

[2] 2. Blitzer A, Brin MF, Lovelace RE, Fahn S. Clinical and laboratory characteristics of focal laryngeal dystonia: study of 110 cases. Laryngoscope 1988, 98:636-640.

[3] 3. Bressman SB, De Leon, D, Brin MF, Risen N, Burke RE, Greene PE, Shale H, Fahn S. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neuro 1989, 26:612-620.

[4] 4. Burke RE, Brin MF, De Leon D, Bressman SB, Fahn S. Comparison of the clinical course of the Jewish and non-Jewiseh juvenile onset familial torsion dystonia. Neurology 1989, 39 (suppl 1):188.

[5] 5. Burke RE, Fahn S, Marsden CD. Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl. Neurology, 1986, 36 :160-164.

[6] 6. Burton K, Farrel K, Li D, Calne DB. Lesions of the putamen and dystonia: CT and magnetig resonance imaging. Neurology 1984, 34:962-965.

[7] 7. Fahn S. High dosage anticholinergic therapy in dystonia. Neurology 1983, 33 :1255-1261.

[8] 8. Fahn S. Generalized dystonia: concept and treatment. Clin Neuropharmacology 1986, 9 (suppl 2) :S37-S48.

[9] 9. Fahn S. Concept and classification of dystonia. Adv Neurol 1988, 50:1-8.

[10] 10. Fahn S. Clinical variants of idiopathic torsion dystonia. J Neurol Neurosurg Psychiatry 1989, (Special Suppl) : 96-100.

[11] 11. Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. In Marsden CD, Fahn S (eds): Movement Disorders 2. London: Butterworths, 1987, p 332-358.

[12] 12. Ferraz HB, Andrade LAF. Symptomatic dystonia: clinical profile of 46 Brazilian patients. Can J Neurol Sei (in press).

[13] 13. Friedman A, Fahn S. Spontaneous remissions in spasmodic torticollis. Neurology 1986, 36 :398-400.

[14] 14. Fross RD, Martin WRN, Ii D, Stoessl AJ, Adam MJ, Ruth TJ, Pate BD, Burton K, Calne DB. Lesions in the putamen: their relevance to dystonia. Neurology 1987, 37 :1125-1129.

[15] 15. Gauthier S. Idioptathic spasmodic torticollis: pathophysiology and treatment. Can J Neurol Sci 1986, 13:88-90.

[16] 16. Greene P, Fahn S. Patterns of spread of dystonia in childhood onset dystonia. Neurology 1987, 37 (suppl 1) : 269.

[17] 17. Greene P, Shale H, Fahn S. Analysis of open-label trials in torsion dystonia using high dosages of anticholinergics and other drugs. Mov Dis 1988, 3:46-60.

[18] 18. Hornykiewcz O, Kish SJ, Becker LE, Farley J, Shannak K. Brain neurotransmitters in dystonia musculorum deformans. N Engl J Med 1986, 315:347-353.

[19] 19. Jankovic J, Orman J. Botulinum: a toxin for cranial-cervical dystonia: a double-blind, placebo-controlled study. Neurology 1987, 37:616-623.

[20] 20. Jankovic J, Svendsen CN, Bird ED. Brain neurotransmitters in dystonia. N Engl J Med 1987, 316:278-279.

[21] 21. Lee RG. The pathophysiology of essential tremor. In Marsden CD, Fahn S (eds): Movement Disorders 2. London: Butterworths, 1987, p 423-437.

[22] 22. Lockwood AH. Medical problems of musicians. N Engl J Med 1989, 320:221-227.

[23] 23. Lowenstein DH, Aminoff MJ. The clinical course of spasmodic torticollis. Neurology 1988, 38:530-532.

[24] 24. Marsden CD. The problem of adult-onset idiopathic torsion dystonia and other isolated dyskinesias in adult life (including blepharospasm, oromandibular dystonia, dystonic writer's cramp, and torticollis or axial dystonia). Adv. Neurol 1976, 14 :259-276.

[25] 25. Marsden CD. Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome): a variant of adult-onset dystonia? J Neurol Neurosurg Psychiatry 1976, 39 :1204-1209.

[26] 26. Marsden CD. The focal dystonias. Clin Neuropharmacol 1986, 9 (suppl 2) :S49-S60.

[27] 27. Marsden CD, Harrison MJG. Idiopathic torsion dystonia (dystonia musculorum deformans): a review of forty-two patients. Brain 1974, 97:793-810.

[28] 28. Marsden CD, Harrison MJG, Bundey S. Natural history of idiopathic torsion dystonia. Adv Neurol 1976, 14:177-186.

[29] 29. Marsden CD, Obeso JA, Zarranz JJ, Lang AB. The anatomical basis of symptomatic hemi-dystonia. Brain 1985, 108:463-483.

[30] 30. McDaniel KD, Cummings JL, Shain S, The «yips»: a focal dystonia of golfers. Neurology 1989, 39:192-195.

[31] 31. Nutt JG, Muenter MD, Melton LJ III, Aronson A, Kurland LT. Epidemiology of dystonia in Rochester, Minnesota. Adv Neurol 1988, 50:361-365.

[32] 32. Oppenheim H. Über eine eigenartige Krampfkrankheit des kindlichen und jugendlichen Alters( dysbasia lordotica progressiva, dystonia musculorum deformans). Neurol Zentralbl 1911, 30:1090-1107.

[33] 33. Parker N. Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry 1985, 48 : 218-224.

[34] 34. Rosenbaun F, Jankovic J. Focal task-specific tremor and dystonia: categorization of occupational movement disorders. Neurology 1988, 38 :522-527.

[35] 35. Yanagisawa N, Goto A, Narabayashi H. Familial dystonia musculorum deformans and tremor. J Neurol Sei 1972, 16:125-136.

[36] 36. Zeman H, Kaelbling R, Pasamanick B. Idiopathic dystonia musculorum deformans: II. The formes frustes. Neurology 1960, 10:1068-1075.

[37] 37. Zweig RM, Hedreen JC, Jankel WR, Casanova MF, Whitehouse PJ, Price DL. Pathology in brainstem regions of individuals with primary dystonia. Neurology 1988, 38:702-706.