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Delays to the diagnosis of cervical dystonia
Journal of Clinical Neuroscience 25 (2016) 62–64
Contents lists available at ScienceDirect
Journal of Clinical Neuroscience journal homepage: www.elsevier.com/locate/jocn
Clinical Study
Delays to the diagnosis of cervical dystonia Kelly L. Bertram ⇑, David R. Williams Neurosciences, Alfred Hospital, Level 4 Central Block, Commercial Road, Melbourne, VIC 3004, Australia Faculty of Medicine Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia
a r t i c l e
i n f o
Article history: Received 20 January 2015 Accepted 17 May 2015
Keywords: Cervical dystonia Delay to diagnosis Diagnosis
a b s t r a c t The diagnosis of cervical dystonia (CD) is based on physical examination and is therefore reliant on clinician experience. Due to variability of presenting symptoms it may be misdiagnosed, thus delaying the provision of effective treatment. We sought to determine the average time taken to make a diagnosis of CD in our clinical cohort and explore contributing factors to diagnostic delay. Forty-nine patients with a diagnosis of CD attending a movement disorder specialist for treatment completed a questionnaire regarding symptoms and clinical interactions at onset and diagnosis. The mean time from symptom onset to diagnosis was 6.8 years (range 0–53 years). More than 50% of patients sought physical therapies initially, prior to consulting their general practitioner. Only 40% of patients sought medical advice within the first 6 months of symptom onset and only 10% were given an initial diagnosis of CD. The first referral from the general practitioner was to a specialist other than a neurologist in 31% of patients. Patients were seen by a mean of three doctors (range one to nine) before being given the correct diagnosis of CD. Delay to diagnosis of CD may in part be due to lack of awareness of the condition amongst health care professionals. Improved diagnostic skill appears likely to have had a substantial impact on the delivery of appropriate treatment in this population. Ó 2015 Elsevier Ltd. All rights reserved.
1. Introduction Cervical dystonia (CD) is a syndrome of abnormal involuntary movements affecting the neck, producing repetitive or sustained muscle contractions resulting in abnormal postures or movements of the head and neck [1]. CD encompasses the postural abnormalities described by the terms torticollis, retrocollis, anterocollis and laterocollis [2], though the majority of patients have a combination of head postures. It is the most common form of dystonia in younger adults and usually the symptoms emerge spontaneously, without an identified cause. Dystonia may also occur secondary to trauma, anti-dopaminergic and neuroleptic medications, or as part of another neurological disease [3], and some genetic forms are now known [4]. The prevalence of CD is reported at between 30 and 89 per million, however a much higher rate of 207 per million was found in a Finnish population following extensive community education through media campaigns [5]. This is likely a reflection of the ascertainment of undiagnosed patients, supporting other findings suggesting that more than half those with CD may be undiagnosed [6]. ⇑ Corresponding author. Tel.: +61 3 9076 2059; fax: +61 3 9076 2671. E-mail address: [email protected] (K.L. Bertram). http://dx.doi.org/10.1016/j.jocn.2015.05.054 0967-5868/Ó 2015 Elsevier Ltd. All rights reserved.
The delay to diagnosis of CD has rarely been studied. A review of health related quality of life in Australian and New Zealand patients with dystonia suggests an average of 3 to 8 years elapse before a diagnosis of CD is made [7]. A study in the USA of 108 patients had an average of 3.5 years to diagnosis, with a range up to 28 years [8]. Given that safe and efficacious treatment is available for CD, which can be a painful and embarrassing condition, we sought to identify the barriers to a more timely diagnosis. 2. Methods This retrospective survey involved patients with CD diagnosed by a movement disorder expert (D.R.W., K.L.B.) attending a specialist clinic. Patients were asked to complete a brief paper-based questionnaire regarding their presenting symptoms and clinical interactions at the onset of symptoms and at the time of diagnosis. Patients were asked to recall when they first became aware of symptoms, how long symptoms were present before seeking medical advice and, if there was a delay to seeking this advice, whether they sought alternative management options during that time. They were asked what change in their symptoms prompted assessment from their general practitioner and what that first diagnosis was. The management plan and particularly referral for specialist assessment was documented. Patients were asked how many prac-
63
K.L. Bertram, D.R. Williams / Journal of Clinical Neuroscience 25 (2016) 62–64
titioners they could recall seeking assistance from before the diagnosis of CD was made and what expertise these practitioners had. Information regarding symptoms and risk factors for the development of CD was requested and checked with the patient after completion. The participants were also examined to document the features of their dystonic condition. This study had approval through the Alfred Human Research Ethics Committee and all participants provided written, informed consent prior to completing the survey. 3. Results A total of 50 participants were recruited and 49 patients completed the survey (male:female 12:37). The mean age of symptom onset was 45.8 years and mean time from symptom onset to diagnosis of CD was 6.8 years (range 0–53 years). Four patients had a family history of dystonia though none had undergone genetic testing. A family history of another movement disorder was reported in 11 patients (essential tremor in nine, Parkinson’s disease in four). An episode of trauma was recalled by 15 patients identified prior to the onset of their symptoms. However this was distant to the onset of symptoms in four (>20 years) and only in two patients did the trauma occur within the 6 months prior to the onset of dystonic symptoms. Documented trauma included head injury in nine (three with documented loss of consciousness) and neck injury without head injury in eight. Six patients had a history of regular antidopaminergic or antipsychotic medication use prior to the development of their dystonia. Abnormal movement in the form of abnormal head or neck posture, or head tremor, was noted as a presenting symptom in 70%. Pain or discomfort was an early symptom, occurring within 6 months, in most (84%, 41/49) and in 51% of patients pain was the presenting symptom (Table 1). In many patients, pain restricted (20/49; 40%) or prevented (10/49; 20%) activities within the first 6 months of onset. Almost a third of patients reported a restriction in the ability to read or watch television due to abnormal posture or tremor (15/49). Over the course of their CD, 75% of participants felt social embarrassment due to their head posture, resulting in restriction of social activities by half. A ‘‘sensory trick” was reported by 40% of patients, however during examination a partial or complete sensory trick was observed in 54%. On neurological examination 12 patients had a dystonic tremor phenotype, the remaining patients had sustained or intermittent muscle contractions producing abnormal dystonic postures in the head and neck. Fifteen patients reported upper limb dystonia in the form of writer’s cramp or tremor, which could be observed by the neurologist examining the patient in 12 cases. Mirror movements were seen during the examination in six patients. Patients sought treatment from physical therapies (53%) and alternative medicine (17%) prior to discussing symptoms with
Table 1 Symptoms recalled to be present at the onset of cervical dystonia Symptom
Number of patients reporting symptom (n = 49)
Pain Stiffness or restriction of movement in the neck Abnormal head position or tremor Headache Muscle cramps in the neck or shoulders Impairment of ability to read or watch television due to head posture or shake Elevation of shoulder Arm or hand shake
25 32 34 16 15 15 14 12
their general practitioner. Almost a third of those surveyed presented to their general practitioner at the time of symptom onset (27%) and 40% within 6 months. Only five (10%) patients were given an initial diagnosis of CD. Musculoskeletal conditions were diagnosed in 10 (20%), psychiatric disorders including anxiety, depression and psychogenic conditions diagnosed in eight (16%), and 10 were given the diagnosis of another movement disorder, including Parkinson’s disease (n = 4), essential tremor (n = 5) and Tourette syndrome (n = 1) (Table 2). In addition to four patients diagnosed with a primary mood disorder, concurrent anxiety was diagnosed in six patients, and depression in four. Thirteen patients were not given a diagnosis when initially seen by their GP. Only 40% were referred to a neurologist initially (Table 3). Patients were seen by a mean of three doctors (range one to nine) before receiving the correct diagnosis of CD. Prior to diagnosis 27 patients underwent imaging of their neck (radiograph, CT scan or MRI). In addition to neurological care, patients saw a number of allied health and alternative medicine practitioners for their symptoms. Treatment for CD included botulinum toxin in all patients, but prior to this therapy 12 patients were prescribed analgesics, 13 were prescribed benzodiazepines, two were treated with levodopa (for presumed Parkinson’s disease) and five with tetrabenazine. Patients who were not initially diagnosed with CD or referred to a neurologist were asked to clarify what prompted them to seek further medical opinions. In the majority of patients (65%) this was worsening of the presenting symptom or inadequate response to initial treatment, rather than the development of new symptoms.
4. Discussion CD is an uncommon disorder with varying symptoms at presentation including pain, muscular stiffness, restriction of movement and postural abnormalities. In this study we found that only 10% of patients were correctly diagnosed following the initial presentation to their local doctor and in most there was a delay of more than 6 years before the correct diagnosis was made. This delay is expected to have a significant impact on a patient’s quality of life as 75% of patients reported significant social embarrassment and two-thirds experienced restriction in their daily activities due to CD. Although symptoms of abnormal movement in the head or neck were noted by the majority of patients to be early presenting features, few patients were initially diagnosed with a movement dis-
Table 2 Initial diagnosis for cervical dystonia patients Initial diagnosis
Cervical dystonia Neurological disorders Parkinson’s disease Essential tremor Tourette syndrome
5 10 4 5 1
Musculoskeletal Muscular injury or strain Arthritis Scoliosis Migraine
10 6 3 1 2
Psychiatric disorder Anxiety Depression Psychogenic/non organic Likely tumor No diagnosis given
8 2 2 4 1 13
With concurrent new diagnosis anxiety
With concurrent new diagnosis depression
1
2
1
1 1 1 1
1
1
64
K.L. Bertram, D.R. Williams / Journal of Clinical Neuroscience 25 (2016) 62–64
Table 3 Practitioners seen for treatment for cervical dystonia Practitioner
Initial referral
Ever seen for this problem
Neurologist Rheumatologist Orthopaedic surgeon Neurosurgeon Psychiatrist Chiropractor Osteopath Physiotherapist Massage therapist Naturopath No initial referral made
20 4 2 5 1 – – 1 – – 16
49 4 3 11 8 14 7 23 16 2 –
Individual patients also saw a Chinese herbalist, Indian traditional medicine practitioner, acupuncturist, hypnotist, pain management specialist, health support worker and clinical nurse.
order. Despite apparently having visible abnormalities of head posture and movement, a significant number of patients were initially diagnosed with psychiatric disturbance including anxiety or depression, or with a psychogenic condition. Specific features which suggest the diagnosis of dystonia including sensory tricks and upper limb tremor were common. These findings suggest a lack of awareness of the symptoms and signs of CD amongst general practitioners and non-neurology trained specialists. A significant number of patients sought alternative and physical treatments for their condition before consulting their doctor. This is likely due to the low public profile of dystonia and the overlap of some symptoms, including pain and neck stiffness, to common musculoskeletal complaints. CD is a clinical diagnosis and therefore relies on clinician experience. Symptoms of pain and stiffness can also occur in more prevalent musculoskeletal conditions, commonly seen by general practitioners. Therefore determining who should be referred for specialist review may be challenging. Anxiety or depression were diagnosed in a substantial proportion of patients as the cause for their dystonic symptoms. It is not possible retrospectively to determine if patients had other features consistent with these diagnoses at the time they first saw their general practitioner, however concurrent psychiatric symptoms are frequently reported in CD [9]. It is possible the treating clinician prioritised treatment for these symptoms in the initial consultation with the intention to later attend to other symptoms if they did not improve. As a cross-sectional survey recall bias may have influenced the results of this study. However two other cross-sectional studies of CD diagnosis have shown similar results in other countries. The average time to diagnosis in the USA study was 3.6 years with 3.5 health care providers consulted prior to the correct diagnosis, including two separate neurological opinions in 36% of survey participants [8]. A larger study in Canada showed a diagnostic delay of 6.4 years with 3.3 doctors seen before diagnosis in a cohort of 457 patients [10]. These findings support the notion that CD may be difficult for inexperienced doctors to diagnose, requiring specialist neurological input to recognise the diagnostic features of CD.
Although patients were asked to comment on their initial presenting symptoms, it was not possible to determine what symptoms were specifically discussed during their initial medical appointment, or whether symptoms may have changed over time but were later recalled by the patient to be present at onset. Similarly, progressive change in symptoms or phenomenology, which may make the diagnosis more obvious, are not able to be accurately determined in a retrospective survey. Features such as sensory tricks, highly suggestive of CD, may not have been noted by the patients at the onset of their condition and therefore would have required specific questioning by the doctor to determine their presence. The population studied in this survey were attending a movement disorders clinic for botulinum toxin treatment, therefore it may not reflect the breadth of patient experience with CD. It is possible a prospective study of newly diagnosed patients would yield differing results. 5. Conclusions We have identified a long delay in referring patients with CD for appropriate assessment and treatment. The reasons for this are likely to include the variable and insidious nature of symptoms, their overlap with other musculoskeletal disorders and a lack of awareness of the disorder. Given the impact that CD has on the quality of life of patients, efforts need to focus on increasing awareness of the symptoms and signs of CD amongst primary care physicians and physiotherapists who see these patients. Conflicts of Interest/Disclosures The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. References [1] Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863–73. [2] Albanese A. The clinical expression of primary dystonia. J Neurol 2003;250:1145–51. [3] Geyer HL, Bressman SB. The diagnosis of dystonia. Lancet Neurol 2006;5:780–90. [4] Jinnah HA, Berardelli A, Comella C, et al. The focal dystonias: current views and challenges for future research. Mov Disord 2013;28:926–43. [5] Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group. A prevalence study of primary dystonia in eight European countries. J Neurol 2000;247:787–92. [6] Jankovic J, Tsui J, Bergeron C. Prevalence of cervical dystonia and spasmodic torticollis in the United States general population. Parkinsonism Relat Disord 2007;13:411–6. [7] Lim VK. Health related quality of life in patients with dystonia and their caregivers in New Zealand and Australia. Mov Disord 2007;22:998–1003. [8] Tiderington E, Goodman EM, Rosen AR, et al. How long does it take to diagnose cervical dystonia? J Neurol Sci 2013;335:72–4. [9] Fabbrini G, Berardelli I, Moretti G, et al. Psychiatric disorders in adult-onset focal dystonia: a case-control study. Mov Disord 2010;25:459–65. [10] Jog M, Chouinard S, Hobson D, et al. Causes for treatment delays in dystonia and hemifacial spasm: a Canadian survey. Can J Neurol Sci 2011;38:704–11.
Contents lists available at ScienceDirect
Journal of Clinical Neuroscience journal homepage: www.elsevier.com/locate/jocn
Clinical Study
Delays to the diagnosis of cervical dystonia Kelly L. Bertram ⇑, David R. Williams Neurosciences, Alfred Hospital, Level 4 Central Block, Commercial Road, Melbourne, VIC 3004, Australia Faculty of Medicine Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia
a r t i c l e
i n f o
Article history: Received 20 January 2015 Accepted 17 May 2015
Keywords: Cervical dystonia Delay to diagnosis Diagnosis
a b s t r a c t The diagnosis of cervical dystonia (CD) is based on physical examination and is therefore reliant on clinician experience. Due to variability of presenting symptoms it may be misdiagnosed, thus delaying the provision of effective treatment. We sought to determine the average time taken to make a diagnosis of CD in our clinical cohort and explore contributing factors to diagnostic delay. Forty-nine patients with a diagnosis of CD attending a movement disorder specialist for treatment completed a questionnaire regarding symptoms and clinical interactions at onset and diagnosis. The mean time from symptom onset to diagnosis was 6.8 years (range 0–53 years). More than 50% of patients sought physical therapies initially, prior to consulting their general practitioner. Only 40% of patients sought medical advice within the first 6 months of symptom onset and only 10% were given an initial diagnosis of CD. The first referral from the general practitioner was to a specialist other than a neurologist in 31% of patients. Patients were seen by a mean of three doctors (range one to nine) before being given the correct diagnosis of CD. Delay to diagnosis of CD may in part be due to lack of awareness of the condition amongst health care professionals. Improved diagnostic skill appears likely to have had a substantial impact on the delivery of appropriate treatment in this population. Ó 2015 Elsevier Ltd. All rights reserved.
1. Introduction Cervical dystonia (CD) is a syndrome of abnormal involuntary movements affecting the neck, producing repetitive or sustained muscle contractions resulting in abnormal postures or movements of the head and neck [1]. CD encompasses the postural abnormalities described by the terms torticollis, retrocollis, anterocollis and laterocollis [2], though the majority of patients have a combination of head postures. It is the most common form of dystonia in younger adults and usually the symptoms emerge spontaneously, without an identified cause. Dystonia may also occur secondary to trauma, anti-dopaminergic and neuroleptic medications, or as part of another neurological disease [3], and some genetic forms are now known [4]. The prevalence of CD is reported at between 30 and 89 per million, however a much higher rate of 207 per million was found in a Finnish population following extensive community education through media campaigns [5]. This is likely a reflection of the ascertainment of undiagnosed patients, supporting other findings suggesting that more than half those with CD may be undiagnosed [6]. ⇑ Corresponding author. Tel.: +61 3 9076 2059; fax: +61 3 9076 2671. E-mail address: [email protected] (K.L. Bertram). http://dx.doi.org/10.1016/j.jocn.2015.05.054 0967-5868/Ó 2015 Elsevier Ltd. All rights reserved.
The delay to diagnosis of CD has rarely been studied. A review of health related quality of life in Australian and New Zealand patients with dystonia suggests an average of 3 to 8 years elapse before a diagnosis of CD is made [7]. A study in the USA of 108 patients had an average of 3.5 years to diagnosis, with a range up to 28 years [8]. Given that safe and efficacious treatment is available for CD, which can be a painful and embarrassing condition, we sought to identify the barriers to a more timely diagnosis. 2. Methods This retrospective survey involved patients with CD diagnosed by a movement disorder expert (D.R.W., K.L.B.) attending a specialist clinic. Patients were asked to complete a brief paper-based questionnaire regarding their presenting symptoms and clinical interactions at the onset of symptoms and at the time of diagnosis. Patients were asked to recall when they first became aware of symptoms, how long symptoms were present before seeking medical advice and, if there was a delay to seeking this advice, whether they sought alternative management options during that time. They were asked what change in their symptoms prompted assessment from their general practitioner and what that first diagnosis was. The management plan and particularly referral for specialist assessment was documented. Patients were asked how many prac-
63
K.L. Bertram, D.R. Williams / Journal of Clinical Neuroscience 25 (2016) 62–64
titioners they could recall seeking assistance from before the diagnosis of CD was made and what expertise these practitioners had. Information regarding symptoms and risk factors for the development of CD was requested and checked with the patient after completion. The participants were also examined to document the features of their dystonic condition. This study had approval through the Alfred Human Research Ethics Committee and all participants provided written, informed consent prior to completing the survey. 3. Results A total of 50 participants were recruited and 49 patients completed the survey (male:female 12:37). The mean age of symptom onset was 45.8 years and mean time from symptom onset to diagnosis of CD was 6.8 years (range 0–53 years). Four patients had a family history of dystonia though none had undergone genetic testing. A family history of another movement disorder was reported in 11 patients (essential tremor in nine, Parkinson’s disease in four). An episode of trauma was recalled by 15 patients identified prior to the onset of their symptoms. However this was distant to the onset of symptoms in four (>20 years) and only in two patients did the trauma occur within the 6 months prior to the onset of dystonic symptoms. Documented trauma included head injury in nine (three with documented loss of consciousness) and neck injury without head injury in eight. Six patients had a history of regular antidopaminergic or antipsychotic medication use prior to the development of their dystonia. Abnormal movement in the form of abnormal head or neck posture, or head tremor, was noted as a presenting symptom in 70%. Pain or discomfort was an early symptom, occurring within 6 months, in most (84%, 41/49) and in 51% of patients pain was the presenting symptom (Table 1). In many patients, pain restricted (20/49; 40%) or prevented (10/49; 20%) activities within the first 6 months of onset. Almost a third of patients reported a restriction in the ability to read or watch television due to abnormal posture or tremor (15/49). Over the course of their CD, 75% of participants felt social embarrassment due to their head posture, resulting in restriction of social activities by half. A ‘‘sensory trick” was reported by 40% of patients, however during examination a partial or complete sensory trick was observed in 54%. On neurological examination 12 patients had a dystonic tremor phenotype, the remaining patients had sustained or intermittent muscle contractions producing abnormal dystonic postures in the head and neck. Fifteen patients reported upper limb dystonia in the form of writer’s cramp or tremor, which could be observed by the neurologist examining the patient in 12 cases. Mirror movements were seen during the examination in six patients. Patients sought treatment from physical therapies (53%) and alternative medicine (17%) prior to discussing symptoms with
Table 1 Symptoms recalled to be present at the onset of cervical dystonia Symptom
Number of patients reporting symptom (n = 49)
Pain Stiffness or restriction of movement in the neck Abnormal head position or tremor Headache Muscle cramps in the neck or shoulders Impairment of ability to read or watch television due to head posture or shake Elevation of shoulder Arm or hand shake
25 32 34 16 15 15 14 12
their general practitioner. Almost a third of those surveyed presented to their general practitioner at the time of symptom onset (27%) and 40% within 6 months. Only five (10%) patients were given an initial diagnosis of CD. Musculoskeletal conditions were diagnosed in 10 (20%), psychiatric disorders including anxiety, depression and psychogenic conditions diagnosed in eight (16%), and 10 were given the diagnosis of another movement disorder, including Parkinson’s disease (n = 4), essential tremor (n = 5) and Tourette syndrome (n = 1) (Table 2). In addition to four patients diagnosed with a primary mood disorder, concurrent anxiety was diagnosed in six patients, and depression in four. Thirteen patients were not given a diagnosis when initially seen by their GP. Only 40% were referred to a neurologist initially (Table 3). Patients were seen by a mean of three doctors (range one to nine) before receiving the correct diagnosis of CD. Prior to diagnosis 27 patients underwent imaging of their neck (radiograph, CT scan or MRI). In addition to neurological care, patients saw a number of allied health and alternative medicine practitioners for their symptoms. Treatment for CD included botulinum toxin in all patients, but prior to this therapy 12 patients were prescribed analgesics, 13 were prescribed benzodiazepines, two were treated with levodopa (for presumed Parkinson’s disease) and five with tetrabenazine. Patients who were not initially diagnosed with CD or referred to a neurologist were asked to clarify what prompted them to seek further medical opinions. In the majority of patients (65%) this was worsening of the presenting symptom or inadequate response to initial treatment, rather than the development of new symptoms.
4. Discussion CD is an uncommon disorder with varying symptoms at presentation including pain, muscular stiffness, restriction of movement and postural abnormalities. In this study we found that only 10% of patients were correctly diagnosed following the initial presentation to their local doctor and in most there was a delay of more than 6 years before the correct diagnosis was made. This delay is expected to have a significant impact on a patient’s quality of life as 75% of patients reported significant social embarrassment and two-thirds experienced restriction in their daily activities due to CD. Although symptoms of abnormal movement in the head or neck were noted by the majority of patients to be early presenting features, few patients were initially diagnosed with a movement dis-
Table 2 Initial diagnosis for cervical dystonia patients Initial diagnosis
Cervical dystonia Neurological disorders Parkinson’s disease Essential tremor Tourette syndrome
5 10 4 5 1
Musculoskeletal Muscular injury or strain Arthritis Scoliosis Migraine
10 6 3 1 2
Psychiatric disorder Anxiety Depression Psychogenic/non organic Likely tumor No diagnosis given
8 2 2 4 1 13
With concurrent new diagnosis anxiety
With concurrent new diagnosis depression
1
2
1
1 1 1 1
1
1
64
K.L. Bertram, D.R. Williams / Journal of Clinical Neuroscience 25 (2016) 62–64
Table 3 Practitioners seen for treatment for cervical dystonia Practitioner
Initial referral
Ever seen for this problem
Neurologist Rheumatologist Orthopaedic surgeon Neurosurgeon Psychiatrist Chiropractor Osteopath Physiotherapist Massage therapist Naturopath No initial referral made
20 4 2 5 1 – – 1 – – 16
49 4 3 11 8 14 7 23 16 2 –
Individual patients also saw a Chinese herbalist, Indian traditional medicine practitioner, acupuncturist, hypnotist, pain management specialist, health support worker and clinical nurse.
order. Despite apparently having visible abnormalities of head posture and movement, a significant number of patients were initially diagnosed with psychiatric disturbance including anxiety or depression, or with a psychogenic condition. Specific features which suggest the diagnosis of dystonia including sensory tricks and upper limb tremor were common. These findings suggest a lack of awareness of the symptoms and signs of CD amongst general practitioners and non-neurology trained specialists. A significant number of patients sought alternative and physical treatments for their condition before consulting their doctor. This is likely due to the low public profile of dystonia and the overlap of some symptoms, including pain and neck stiffness, to common musculoskeletal complaints. CD is a clinical diagnosis and therefore relies on clinician experience. Symptoms of pain and stiffness can also occur in more prevalent musculoskeletal conditions, commonly seen by general practitioners. Therefore determining who should be referred for specialist review may be challenging. Anxiety or depression were diagnosed in a substantial proportion of patients as the cause for their dystonic symptoms. It is not possible retrospectively to determine if patients had other features consistent with these diagnoses at the time they first saw their general practitioner, however concurrent psychiatric symptoms are frequently reported in CD [9]. It is possible the treating clinician prioritised treatment for these symptoms in the initial consultation with the intention to later attend to other symptoms if they did not improve. As a cross-sectional survey recall bias may have influenced the results of this study. However two other cross-sectional studies of CD diagnosis have shown similar results in other countries. The average time to diagnosis in the USA study was 3.6 years with 3.5 health care providers consulted prior to the correct diagnosis, including two separate neurological opinions in 36% of survey participants [8]. A larger study in Canada showed a diagnostic delay of 6.4 years with 3.3 doctors seen before diagnosis in a cohort of 457 patients [10]. These findings support the notion that CD may be difficult for inexperienced doctors to diagnose, requiring specialist neurological input to recognise the diagnostic features of CD.
Although patients were asked to comment on their initial presenting symptoms, it was not possible to determine what symptoms were specifically discussed during their initial medical appointment, or whether symptoms may have changed over time but were later recalled by the patient to be present at onset. Similarly, progressive change in symptoms or phenomenology, which may make the diagnosis more obvious, are not able to be accurately determined in a retrospective survey. Features such as sensory tricks, highly suggestive of CD, may not have been noted by the patients at the onset of their condition and therefore would have required specific questioning by the doctor to determine their presence. The population studied in this survey were attending a movement disorders clinic for botulinum toxin treatment, therefore it may not reflect the breadth of patient experience with CD. It is possible a prospective study of newly diagnosed patients would yield differing results. 5. Conclusions We have identified a long delay in referring patients with CD for appropriate assessment and treatment. The reasons for this are likely to include the variable and insidious nature of symptoms, their overlap with other musculoskeletal disorders and a lack of awareness of the disorder. Given the impact that CD has on the quality of life of patients, efforts need to focus on increasing awareness of the symptoms and signs of CD amongst primary care physicians and physiotherapists who see these patients. Conflicts of Interest/Disclosures The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. References [1] Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863–73. [2] Albanese A. The clinical expression of primary dystonia. J Neurol 2003;250:1145–51. [3] Geyer HL, Bressman SB. The diagnosis of dystonia. Lancet Neurol 2006;5:780–90. [4] Jinnah HA, Berardelli A, Comella C, et al. The focal dystonias: current views and challenges for future research. Mov Disord 2013;28:926–43. [5] Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group. A prevalence study of primary dystonia in eight European countries. J Neurol 2000;247:787–92. [6] Jankovic J, Tsui J, Bergeron C. Prevalence of cervical dystonia and spasmodic torticollis in the United States general population. Parkinsonism Relat Disord 2007;13:411–6. [7] Lim VK. Health related quality of life in patients with dystonia and their caregivers in New Zealand and Australia. Mov Disord 2007;22:998–1003. [8] Tiderington E, Goodman EM, Rosen AR, et al. How long does it take to diagnose cervical dystonia? J Neurol Sci 2013;335:72–4. [9] Fabbrini G, Berardelli I, Moretti G, et al. Psychiatric disorders in adult-onset focal dystonia: a case-control study. Mov Disord 2010;25:459–65. [10] Jog M, Chouinard S, Hobson D, et al. Causes for treatment delays in dystonia and hemifacial spasm: a Canadian survey. Can J Neurol Sci 2011;38:704–11.