The diagnosis of dystonia

@article{Geyer2006TheDO,
  title={The diagnosis of dystonia},
  author={Howard L. Geyer and Susan Bressman},
  journal={The Lancet Neurology},
  year={2006},
  volume={5},
  pages={780-790}
}
Nonmotor manifestations of dystonia: A systematic review
TLDR
A review of the literature that focuses primarily on the association of these types of dystonia with psychiatric disorders, cognition, sleep, pain, and autonomic symptoms.
Differential diagnosis of dystonia
TLDR
Given the occurrence of confounding factors, along with specific genetic and laboratory test, it is of great importance to apply a specific algorithm to recognize the clinical signs of dystonia.
Diagnostic issues in childhood and adult dystonia.
TLDR
This review focuses on the phenomenology and etiology of pediatric and adult dystonias, designed to provide practical help for neurologists and neuropediatricians to make appropriate diagnoses and plan the therapeutical management of these disorders.
[Treatment of childhood dystonia].
Is this dystonia?
  • A. Albanese, S. Lalli
  • Medicine, Psychology
    Movement disorders : official journal of the Movement Disorder Society
  • 2009
TLDR
A correct recognition of the physical signs that constitute the hallmark of most dystonia syndromes provides the grounds to perform a structured diagnostic sequence and share a consistent methodology.
[Possibilities of treatment of dystonic syndromes with akineton].
TLDR
The authors present the results of the successful treatment with biperiden (akineton), a centrally active anticholinergic drug with additional peripheral choline- and ganglion-blocking effect in cervical dystonia.
Diagnosis of dystonic syndromes—a new eight-question approach
TLDR
An eight-question approach is proposed, with a summary of the evidence for investigations that enable successful diagnosis of dystonic syndromes, to inform both specialists and general neurologists on the appropriate diagnostic test for each patient who presents with a possible dySTONic syndrome.
The clinical approach to movement disorders
TLDR
This Review provides a practical step-by-step approach to help clinicians in their 'pattern recognition' of movement disorders, as part of a process that ultimately leads to the diagnosis.
Delays to the diagnosis of cervical dystonia
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References

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Limb dystonia in progressive supranuclear palsy
Progressive limb dystonia contributed to disability in 8 of 30 patients with progressive supranuclear palsy (PSP). In five, it was present when the patients were on no medication. In four, it had
Dystonia in Wilson's disease
The frequency and type of dystonic movements, as well as brain abnormalities, as depicted with magnetic resonance imaging (MRI), which might correlate with dystonia, were studied in 27 consecutive
Lessons from a remarkable family with dopa-responsive dystonia.
TLDR
In the three cases with childhood onset the symptoms and signs of the condition were abolished 36 to 52 years later by small doses of levodopa.
A genetic study of idiopathic focal dystonias
TLDR
A genetic study of idiopathic focal dystonia was undertaken by examining 153 first‐degree relatives of 40 index patients with torticollis, other focal cranial dystonias, and writer's cramp, suggesting the presence of an autosomal dominant gene or genes with reduced penetrance as a common cause.
Successful treatment of childhood onset symptomatic dystonia with levodopa.
TLDR
A therapeutic trial of levodopa is advised in all patients in whom dystonia has developed in childhood or early adult life, regardless of suspected aetiology or duration of symptoms.
Idiopathic cervical dystonia: Clinical characteristics
TLDR
Because the cervical dystonia in 38% of patients is not spasmodic, it is proposed that the term “spas modic torticollis” is not a completely appropriate designation for this condition.
Phenotypic variability of the DYT1 mutation in German dystonia patients
TLDR
It is demonstrated that writer's cramp or focal cervical dySTONia is a clinical presentation of DYT1 as well as generalized dystonia.
Myoclonus dystonia
TLDR
Obsessive–compulsive disorder (OCD) may be associated with the DYT11 M-D gene; however, a larger sample is necessary to confirm this finding.
Dystonia in multiple system atrophy
TLDR
The prospective clinical study suggests that dystonia is common in untreated MSA-P, which may reflect younger age at disease onset and putaminal pathology in MSA, and future studies are required to elucidate the underlying pathophysiology of dystonian features.
Dopa‐responsive dystonia
TLDR
Observations on the treatment of 66 patients with presumed dopa-responsive dystonia indicate that some patients with clinical syndromes suggestive of DRD may not have an excellent prognosis on long-term levodopa treatment and may represent misclassified cases of childhood-onset parkinsonism.
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