. MdvemefrtDisorders Vol. 3, No.

3, 1988, pp, 188-194 1988 Movement Disorder Society

..

Epidemiology of Focal and Generalized Dystonia in Rochester, Minnesota

John G.Nutt, "Manfred D. Muenter, * Arnold Aronson, "Leonard T. Kurland, and *L. Joseph Melton, III
Oregon Health Sciences University, Portland, Oregon, U.S.A.; "MayoCiinic, Rochester, Minnesota, U.S.A.

Summary: The epidemiology of generalized and focal dystonias was investigated in the Rochester, Minnesota, population over the period 1950-1982. The crude incidence of generalized dystonia was 2 per million persons per year,and for all focal dystonias combined, 24 per million per year. The crude prevalence rate was 34 per million persons for generalized dystonia and 295 per minion persons for all focal dystonias. Torticollis was the most common focal dystonia; essential blepharospasm, orornandibular dystonia, spasmodic dysphonia, and writer's cramp were less common and had roughly equal incidence and -, prevalence rates. Key Words: Generalized dystonia-Focal dystonia=-Epi- . demiology.

Focal dystonias (blepharospasm, oromandibular dystonia, spasmodic dysphonia, torticollis, writer's cramp) have recently been recognized as constituting the second largest diagnostic group of patients to attend movement disorder clinics." Large clinical series have defined the clinical features of the focal dystonias (1-8) and have suggested associations with autoimmune disease (3), thyroid disorders .:', (9,10), antihistaminic and sympathomimetic usage (11,12), and brainstem and diencephalic structurallesions (B), However, no formal epidemiologic studies have defined the frequency of focal dystonias in the general population nor systematically evaluated possible risk factors for the various disorders. The medical records linkage system of the Rochester Epidemiology Project offers a unique opportunity to investigate the epidemiology of the focal and generalized dystonias. The medical records of all individuals residing within the city limits of Rochester, Minnesota, U.S.A., and seeking outpatient or inpatient med- .. ical care locally are available through the resources of the Rochester Epidemiology Project and the Mayo Clinic. Furthermore, in addition to the Mayo Clinic's
Presented in part at the Second International Dystonia Symposium, New York, New York, June
1986.

Address correspondence and reprint requests to Dr. J. G. Nutt at Oregon Health Sciences University, 3131 Southwest Sam Jackson Park Road, Portland, OR 97201, U.S.A.

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EPIDEMIOLOGY
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189
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. .lOl1gtradition of excellence in neurologyv.several Mayo Clinic staff physicians -. have had a special interest in various focal dystoniasvThus, it is likely that these . disorders would be recognized and properly diagnosed in the Rochester popula-

tion.

.'

.... .

.. .We have used these medical records to estimate the incidence and prevalence '.". f generalized and focal dystonias and to examine some suggested associations o between focal dystonias and other medical conditions. An independent study of torticollis in this population was conducted simultaneously by Drs. Drake Duane .' . .and David Claypool, and some of the preliminary results of that investigation are . included in this report as a personal communication. . METHODS
.

...Population-based epidemiologic research is possible in Rochester, Minnesota, ...... because medical care is virtually self-contained within the community and is by a handful of providers. Most care is provided by the Mayo Clinic, 'which has maintained a common medical record system with its two largeaffili- . ~ted hospitals over the past 80 years. This dossier-type medical record contains inpatient and outpatient data and is easily retrievable for review. The diag- . .noses and surgical procedures entered into these records are indexed. The index .. 'includes the diagnoses made for outpatient office or clinic consultations, emergencyroom visits, nursing home care, hospitalizations, autopsy examination, arid " death certification. The medical records ofthe other medical care providers in the .:area who had served the local population are also indexed and retrievable through .the medical records linkage system of the Rochester Epidemiology Project. Thus, .... details of all medical care provided locally to the residents of Rochester are the available for study. '.... Access to this record system was obtained by a protocol approved by the Mayo' . Clinic Institutional Review Board. All charts coded for diagnoses that might in- '. .. elude blepharospasm, Meige syndrome or cranial dystonia, spasmodic dysphonia, . writer's or occupational cramp, other focal and segmental dystonias, and generalized dystonia for patients residing within the Rochester city limits between the years 1950 and 1982 were reviewed by the first author. Duane et al. reviewed all ..'cases coded as torticollis for the years 1960through 1979. The diagnostic category ..of tardive dyskinesia, which could conceivably contain cases of "spontaneous .:dyskinesia," was not reviewed. Cases were defined as "definite" if the chart ..description was typical for dystonia; as "probable" if the patient had many fea.'.tures of dystonia but atypical features were present or descriptions by chart were 'not definitive; as "possible" if the information from the chart indicated some features consistent with a dystonic disorder but inadequacy of description or other . features raised significant questions about the diagnosis; and as "not dystonia" if the patient's symptoms were clearly not those of a chronic dystonia. The dystonia had to have been present a minimum of 6 months. Essential blepharospasm was defined as forceful involuntary closure of both eyes not caused by lid or ocular pathology and not accompanied by involvement of other cranial muscles. Oral mandibular dystonia (Meige syndrome or cranial dystonia) was defined as abnor-

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J. G.NUTTETAL.

mal movements or spasms of facial, masticatory, lingual, or pharyngeal Iature and could also include blepharospasm. Spasmodic dysphonia as abnormal phonation caused by involuntary irregular movement or spasm larynx and was differentiated from vocal tremor (but this could also be Writer's cramp (occupational cramp) was defined as abnormal posture or i tremor induced by handwriting or other specific fine motor tasks. dystonia was dystonia affecting one or more limbs as well as axial Torticollis was defined as noncongenital, involuntary, usually asymmetrical, tractions of the cervical muscles producing semirhythrnic, arrhythmic, Or movement of the head on the cervical spine. Dystonias were categorized by the most prominent dystonic feature(s) and classified as primary (idiopathic) and secondary (dystonia caused by rologic injury or disease process or as a feature of a systems degeneration). Inpatient and outpatient records of all patients classified as "possible "probable," or "definite" dystonia by the principal investigator were by Dr. Muenter, and all patients with "possible," "probable," or ' spasmodic dysphonia were reviewed by Dr. Aronson. Consensus was cases to be accepted as "definite" dystonia. The charts of an cases were for evidence of thyroid disease, prior drug use (specifically neuroleptics, _ thornimetic, antihistaminics, and other drugs affecting central _ autoimmune disorders, other neurologic disease, and family histories of neurO-, logic disorders. Patients with a history of 2 or more months of neuroleptic exposure prior to the onset of the dystonia were excluded. For calculating incidence and prevalence rates, the entire population of -'-"-VvU-_ ester, Minnestoa, was considered to be at risk; the denominator were derived from decennial census figures (14). Prevalence was calculated for January 1, 1983, except for torticollis, which was calculated for January 1, 1 The denominator was the Rochester population determined by the 1980 census of by extrapolation of census data to 1983 (14). Although rates could not be ageadjusted due to the small numbers of patients with each condition, the Rochester. population is somewhat younger, on average, than United States whites generally; consequently, age adjustment would have had the effect of increasing the crude rates by a small margin. RESULTS Six hundred ninety-seven medical histories were reviewed and 23 cases were accepted as representing idiopathic dystonia. Eleven cases of torticollis were' found in a review of 917 patients indexed between 1960 and 1979 (D. Duane, personal communication). A major difficulty in selecting patients was related to differentiating idiopathic -. . and secondary dystonia. Two of the cases of generalized dystonia had onset in childhood, and the question of static encephalopathy related to perinatal injury was raised in both. One was the product ef a breech delivery, but had normal milestones and intelligence (IQ 121). At age 3, he developed a dysarthria, and at age 6, dystonic gait. A brother had an uncharacterized speech difficulty , The

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child also had normal milestones and' developed aprogressived ystonia in, 'the arms at age 9. As both had had normal milestones for several years of life before dystonic symptomatology appeared, they were classified as idiopathic dystonia. Further difficulties in classification included two patients with oromandibular dystonia and evidence of extensive cerebrovascular disease whose dystonia may . been related to vascular lesions in the midbrain or thalamus (13). Another '. case of oromandibular dystonia also had ataxia and peripheral neuropathy raising the question of some type of system degeneration. Nevertheless, these three patients were included as idiopathic cases. Torticollis was the most common focal dystonia. Essential blepharospasm, oromandibular dystonia (Meige syndrome), spasmodic dysphonia, and writer's cramp were less frequent (Table O. Each focal dystonia had a greater incidence, and all but blepharospasm had a greater prevalence than generalized dystonia in the Rochester population (Table 1). The overall crude incidence of focal dystonia, 24/106 persons/year (95% c.r., 16.4-34.3) was 12 times as great as that of generalized dystonia. The prevalence of all focal dystonias in the Rochester population, 295/106 persons (95%) C.l., 172--479),was ~9 times that of generalized dystonia. The demographics of the affected patients are of limited value because of the small numbers. However, as in previous clinical series, the average age of onset of blepharospasm (56 years) and oromandibular dystonia (66 years) was older than that for the other focal dystonias (spasmodic dysphonia, 35 years; torticollis, 45 years; writer's cramp, 49 years), although any of the focal dystonias could appear in later life (Table 1). Only generalized dystonia had onset in childhood in our series; childhood onset of focal dystonias has been uncommon in other series as well (1-8). There was not the marked preponderance of females among patients with blepharospasm and cranial dystonia noted in other series (1-3). No familial clusters of focal or generalized dystonia were identified in this material, but family histories recorded in the charts were generally sketchy . . Dystonia in body areas other than that of the major involvement was seen in
Frequency and demographics of Rochester, MN, residents diagnosed with dystonia, 1950-1982
Incidence Disorder Cases 7 5 Spasmatic dysphonia Torticollis" Writer's
4

Prevalence 95% CI 1.8-9.5 1.1-7.7 0.7-6.9 5.4-19.5 0.7-6,9 0.4-5.8 Cases

1

Age of onset 95% CI Mean 56 (range) (32-77) (40-86)

(16-4J7) (19-76)

Ratea

Rateb 17.2 68.9 51.7 88.6 68.9 34

Sex ratio (M:F) 4:3

1:4

4.6
3.3 2.7 10.9 2.7 2.0

4
3 5
4

0.5-95.8 18.7-176 10.7-151 28.7-207 18.7-176 4.1-124

66
35 45 47 20

2:2

11

2:9
4:0 3:0

4
3
a
b

(30-69) (3-49)

c
d

Crude incidence per 1,000,000 person-years. Crude prevalence per 1,000,000 persons. Orornandibular dystonia. Preliminary data (D. Duane, personal communication).

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patients with blepharospasm, o"romandibuhird.ystonia, and spasmodic but not the patients with torticollis ". rwriter's cramp (Table 2); o was present in many of the patients with focal dystonias, with the ex writer's cramp (Table 2), as has been noted in other reports (3,4,7,8)~ neurologic features in the patients with orornandibular dystonia: included a t-'~'.~u.~ .. , with ataxia and a peripheral neuropathy, possibly suggesting system __,..,_U"". tion, such as olivopontocerebellar atrophy. Two other patients had e u ' . ........ cerebrovascular disease; one of those two came to postmortem and had' "', u"''-'.':.. of lacunar infarcts in the .basal ganglia, thalamus, subcortical.white matterv.a ...-."< ..."''-c'" pons. One patient with spasmodic dysphonia also had narcolepsy (Table 2). The chronic use of syrnpathomimetics, antihistamines, or other centrally ... ", adrenergic agents was limited to the patient with spasmodic dysphonia and . colepsy who had been treated with methylphenidate for many years (Table. . Possible autoimmune diseases in the blepharospasm patients included onepatie ...... ", "..... with presumptive thyroid, Sjogren's syndrome and pernicious anemia and a . and with a monoclonal gammopathy. The oro mandibular dystonia group .lI.Lu\.'u.: two patients with rheumatoid arthritis and a third patient with a gammopathy. Six patients in the torticollis group had had thyroid disease> dence of focal vascular lesions of the midbrain and thalamus were present in patients with oro mandibular dystonia (these two patients were not the patients-. with possible autoimmune disorders) (Table 3).
...,UIJll".. 11' ......

DISCUSSION . The prevalence of generalized dystonia in the Rochester pOPulation(~4' ..... million persons) is greater than the 11 per million described for the Jewish.'<', ulation of Israel (15) and for Panay, Philippines (16), but less than the 58pet:. million estimated for the greater New York City Jewish population (17). incidence rate of 2 per million person-years in Rochester is twicethat found in European Jewish population of Israel (15). It must be recognized that the n
TABLE 2. Other signs associated with dystonia among Rochester, MN, residents diagnosed with dystonia, 1950-1982
Other dystonic features Disorder Blepharospasm (7)Q OMDb (5) Spasmotic dysphonia (4) Torticollisc (11) Writer's cramp (4) Generalized (3)
a b
C

Tremor % n I % 14 40 100 n 0

2
1

29 20
50

2
4 4 0 0

3
1 0 0 0

2
0 0

36

Total Number of cases are in parentheses. Oromandibular dystonia. Preliminary data (Drake Duane, personal communication).

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EPIDEMIOLOGY OF DYSTONIA
:-',
."

..

.
'"
,"

:
.'

",

..
"

3; Possible etiologic associations among Rochester, . with dystonia, 1950..:..1982

.Adrenergic drugs Disorder Blepharospasm (7)a >OMDb (5) Spasmotic dysphonia Torticollis" (11) Writer's cramp (4) Generalized (3)
a b
C

MN,residents

diagnosed

Autoimmune % n %

Focallesions
n 0

% 40

o
(4)

o
1

29
60: 25

2
0

NA

46 _.

NA
0

Total number of cases in parentheses; NA, not available. Orornandibular dystonia. . Preliminary data (Drake Duane, personal communication).

()f cases in our study is small, so that the confidence limits ~f our estimates are large. . There are no previous studies with which to compare our estimates for prevalence and incidence of focal dystonias. It is striking that these, until recently, commonly unrecognized forms of dystonia were approximately 9 times as prevalent as generalized dystonia and had a 12 times greater incidence rate in Rochester. Furthermore, our estimates of the incidence and prevalence of focal dystenias may be low. These syndromes are often not brought to medical attention, and if so, are frequently not recognized and documented by non-neurologists, even in medically sophisticated communities such as Rochester. Even diseases that are generally recognized by health care providers, such as Parkinson's disease, may be grossly underreported as suggested by a door-to-door survey in Copiah County, Mississippi, U.S.A. (18). That study found that over 40% of the identified cases of parkinsonism were diagnosed by the survey physicians; both the patient and the patient's physician being unaware of the diagnosis. Regardless, the dystonias taken together are more common than a number of other neurologic
Comparison of prevalence of generalized and focal dystonias to that of other neurologic disorders" in the Rochester, MN, population
Disorder Generalized dystonia Focal dystonia Myotonic dystrophy Myasthenia gravis Muscular dystrophy Amyotrophic lateral sclerosis Huntington's disease Parkinsonism Cerebrovascular disease Convulsive disorders
a b

Prevalence" 34 295 30 38 60 64

67
1,569 6,120 6,500 19.

Prevalence rates for disorders other than dystonia are from reference Crude prevalence per 1,000,000 persons.

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1988

J. G. NUTT ETAL. disorders that constitute a small but consistent portion of neurologic Rochester and of most neurologists' practices (Table 4). Thyroid disease, autoimmune disorders, and sympathomimetic drug use present in several patients with focal dystonias, but the small numbers and a control group make it impossible to assess the significance of these J.u The presence of lacunar strokes in two patients with orornandibular lends credence to focal lesions of brainstem, thalamus, and basal b~~'e~~'~ possible etiology of some cases of this form of cranial dystonia (13).
U-0u'V .....

nT<'_~. -.

Acknowledgment: We gratefully acknowledge the assistance of Mary Beard and Elias in conducting the study, Peggy Price for preparing the manuscript, and Koster for continuing encouragement. This work was supported in part by the Medical Research Foundation and Research Grants NS21062, NS 17750, and AM 30582 from the National Institutes of Health, U.S. Public Health Service. REFERENCES

.l.n'UUl'"

1. Henderson JW. Essential blepharospasm. Trans Am Opthalmol Soc 1956;54:453-520. 2. Marsden CD. Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome): of adult onset dystonia? J Neural Neurosurg Psychiatry 1976;39: 1204-9. 3. JankovicJ, Ford J. Blepharospasm and orofacial-cervical dystonia: clinical and findings in 100 patients. Ann NeuroI1983;13:402-11. 4. Aminoff MJ, Dedo HH, Izdebski K. Clinical aspects of spasmodic dysphonia.Z N eurol N e u rrve n Psychiatry 1978;41:361-5. 5. Patterson RM, Little Sc. Spasmodic torticollis. J Nerv Ment Dis I943;98:S7lc .... 99. 6. Matthews WB, Beasley P, Parry-Jones W, Garland G. Spasmodic torticollis: a combined study. J Neuro Neurosurg Psychiatry 1978;41:485-92. 7. Couch JR. Dystonia and tremor in spasmodic torticollis. Adv NeuroI1976;14:245-58. 8. Sheehy Ml", Marsden CD. Writer's cramp-a focal dystonia. Brain 1982;105:461-80. 9. Gilbert GJ. The medical treatment of spasmodic torticollis. Arch Neural 1972;27:503-6. 10. Nutt JG, Carter JH, de Garmo PL, Hammerstad JP. Meige syndrome and thyroid Neurology 1984;34(suppl 1):222. 11. Thatch BI, Chase TN, Bosma JF. Oral facial dyskinesia associated with prolonged use histaminic decongestants. N Engl J Med 1975;293:486-7. 12. Powers IN. Decongestant induced blepharospasm and oral facial dystonia. lAMA 3244-5. 13. Jankovic JK, Patel Sc. Blepharospasm associated with brainstem lesions. Neurology 33:1247-50. 14. Schroeder DJ, Offord KP. A SAS Macro which utilizes local and reference population appropriate for incidence, prevalence, and mortality rate calculations in Rochester and County, Minnesota. Technical Report Series, no. 20. Rochester: Section of Medical Statistics, Mayo Clinic, 1982. 15. Korczyn AD, Kahana E, Zilber N, Streiffer M, Karasso R, Alter M. Torsion dystonia in Israel, Ann Neural 1980;8:387-91. 16. Lee LV, Pascasio FM, Fuentes FD, Viterbo GH. Torsion dystonia in Panay, Philippines. Adv NeuroI1976;1l4:137-52. 17. Eldridge R, Gottlieb R. The primary hereditary dystonias: genetic classification of 768 families and revised estimate of gene frequency, autosomal recessive form, and selected bibliography. Adv Neural 1976;14:457-74. 18. Schoenberg BS, Anderson DW, Haerer AF, Prevalence of Parkinson's disease in the biracial population of Copiah County, Mississippi. Neurology 1985;35:841-5. 19. Kurtzke JF, Kurland LT. The epidemiology of neurologic disease. In: Baker AB, Joynt RJ, eds. Clinical Neurology. Philadelphia: Harper and Row, 1986.
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1988