Cervical Dystonia Mimics: A Case Series and Review of the Literature

Raju, S. P. Govinda; Ravi, Amogh; Prashanth, L.K.

doi:10.7916/tohm.v0.707

Cited by 5 publications

(4 citation statements)

References 85 publications

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“…It is clear that, despite its distinct clinical picture, FOP is frequently diagnosed with difficulty and delay, and the disease remains a mystery to its medical attendants [17]. The differential diagnosis is wide and includes tumors (sarcomas, nodular fasciitis, osteoma cutis), infections/inflammations (tuberculosis, post-traumatic myositis, Weber-Christian disease), autoimmune diseases (rheumatoid arthritis, dermatomyositis, ankylosing spondylitis, systemic onset juvenile idiopathic arthritis), genetic diseases (Klippel-Feil syndrome, progressive osseous heteroplasia, Albright hereditary osteodystrophy, pseudohypoparathyroidism), and movement disorders (dystonia) [18][19][20][21][22][23]. In a questionnaire-based study on 138 patients with FOP, Kitterman et al found that only 13% were initially diagnosed with FOP [14].…”

Section: Discussionmentioning

confidence: 99%

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report

Makkawi,

Khojah,

Abualnaja

et al. 2023

Cureus

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Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant disorder characterized by congenital deformities of the big toes and the progressive formation of extra-skeletal bone within soft tissues. The underlying genetic cause of FOP is mostly due to gain-of-function mutations in the AVCR1/ALK2 genes. These mutations cause aberrant bone morphogenetic protein (BMP) signaling pathways and eventually result in cumulative musculoskeletal impairment. FOP has a prevalence of approximately one in every 2 million people worldwide, with nearly 90% of patients being misdiagnosed, possibly leading to an underestimation of its true prevalence. To the best of our knowledge, there are only three reported cases in Saudi Arabia. We report a case of a 21-year-old female patient, a product of a consanguineous marriage, referred to the neurology clinic for new-onset dysphagia and dysarthria in association with progressive painful muscle stiffness, which started at the age of four years. The diagnosis of generalized dystonia disorder was suspected, but eventually the whole exome sequencing showed a pathogenic missense mutation in the ACVR1 gene, confirming the diagnosis of FOP. FOP is a rare, debilitating disorder that can be difficult to diagnose and manage. Current research efforts are focused on early diagnosis and a high index of suspicion to help prevent unnecessary investigations and procedures, slow the progression of the disease, and promote patients’ quality of life and long-term outcomes.

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Section: Discussionmentioning

confidence: 99%

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report

Makkawi,

Khojah,

Abualnaja

et al. 2023

Cureus

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“…They can be classified into musculoskeletal disorders without co-existing neurological abnormalities [GS, congenital vertebral anomalies such as Klippel-Feil syndrome, congenital muscular torticollis ( a rare congenital musculoskeletal disorder with unilateral shortening of SCM )], lesions of the posterior fossa and cervical cord (tumors/ cysts), primary neurological conditions (trochlear /abducens palsy, vestibulopathy), benign paroxysmal torticollis , infections like retropharyngeal abscess and Sandifer syndrome (SS). 1,4 In SS it is thought that the tilted head position probably yields relief from the discomfort caused by acid reflux. Abrupt onset, severe pain, resistance to passive neck movements, fixed posture present equally at rest and action, absence of sensory trick, and persistence in sleep all favour pseudodystonia.…”

Section: Discussionmentioning

confidence: 99%

Pearls & Oy-sters: Grisel Syndrome Presenting as Pseudodystonia: A Twist in the Neck

Cherian

2022

Neurology

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Pseudodystonia is a term that describes abnormal postures, repetitive movements, or both, where clinical analysis, imaging, laboratory or electrophysiological investigations indicate that these movements are not consistent with dystonia. Grisel’s syndrome (GS), characterised by rotatory subluxation of the atlantoaxial joint (AAJ) due to non-traumatic causes, is a cause of pseudodystonia. GS is seen in children less than 12 years of age, and should be suspected in patients with acute onset of painful torticollis. We report two girls, aged 9 and 6 years, who developed painful torticollis following upper respiratory tract (URT) infection. They were thought to have cervical dystonia and referred to a movement disorder specialist for botulinum neurotoxin therapy (BoNT). Magnetic resonance imaging (MRI) of the cervical spine showed type I and type II rotary AAJ subluxation respectively, which confirmed the diagnosis of GS. Short tau inversion recovery (STIR) hyperintensity was noted suggesting AAJ edema without any bone erosion or cord compression. Abruptness of onset, presence of severe pain, resistance to passive neck movements, fixed postures present equally in rest and action, absence of sensory trick, and persistence in sleep favor pseudodystonia. Both subjects improved with conservative treatment, which included temporary immobilization of the cervical spine and anti-inflammatory drugs. Early identification and treatment is imperative to avoid neurological complications, like high cervical compressive myelopathy, which can lead to quadriplegia and respiratory distress. Prominent sternocleidomastoid (SCM) contraction ipsilateral to the rotated chin helps to clinically identify GS.

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“…Further support of a high rate of CD underdiagnosis as a ubiquitous phenomenon also derives from family-based studies from studies assessing diagnostic delay in several geographic areas [ 12 – 16 ]. Diagnostic errors may largely be due to the clinical variability of CD but also to the existence of several related conditions, for example, pseudodystonia mimicking the abnormal movements or postures of CD [ 17 , 18 ]. In the case of CD, dystonia mimics may include neck chorea producing non-repetitive head movements [ 19 ]; neck tics associated with ability to mentally suppress the spasms [ 20 ]; orthopedic neck diseases (like atlanto-axial and shoulder subluxation, or fracture of the cervical vertebrae), rheumatologic neck diseases, and posterior fossa tumors, all leading to tonic postures or movement of the head [ 21 ]; lower motor neuron disease/myopathy/myasthenia gravis inducing weakness of the neck muscles opposite to the abnormal posture [ 22 , 23 ]; and ocular torticollis characterized by diplopia caused by the voluntary correction of the abnormal neck posture [ 24 ].…”

Section: Introductionmentioning

confidence: 99%

Validation of a guideline to reduce variability in diagnosing cervical dystonia

et al. 2023

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Background Cervical dystonia is characterized by a variable pattern of neck muscle involvement. Due to the lack of a diagnostic test, cervical dystonia diagnosis is based on clinical examination and is therefore subjective. The present work was designed to provide practical guidance for clinicians in confirming or refuting suspected cervical dystonia. Methods Participants were video recorded according to a standardized protocol to assess 6 main clinical features possibly contributing to cervical dystonia diagnosis: presence of repetitive, patterned head/neck movements/postures inducing head/neck deviation from neutral position (item 1); sensory trick (item 2); and red flags related to conditions mimicking dystonia that should be absent in dystonia (items 3–6). Inter-/intra-rater agreement among three independent raters was assessed by k statistics. To estimate sensitivity and specificity, the gold standard was cervical dystonia diagnosis reviewed at each site by independent senior neurologists. Results The validation sample included 43 idiopathic cervical dystonia patients and 41 control subjects (12 normal subjects, 6 patients with isolated head tremor, 4 with chorea, 6 with tics, 4 with head ptosis due to myasthenia or amyotrophic lateral sclerosis, 7 with orthopedic/rheumatologic neck diseases, and 2 with ocular torticollis). The best combination of sensitivity and specificity was observed considering all the items except for an item related to capability to voluntarily suppress spasms (sensitivity: 96.1%; specificity: 81%). Conclusions An accurate diagnosis of cervical dystonia can be achieved if, in addition to the core motor features, we also consider some clinical features related to dystonia mimics that should be absent in dystonia.

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Cervical Dystonia Mimics: A Case Series and Review of the Literature

Cited by 5 publications

References 85 publications

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report

Pearls & Oy-sters: Grisel Syndrome Presenting as Pseudodystonia: A Twist in the Neck

Validation of a guideline to reduce variability in diagnosing cervical dystonia

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