Dopa responsive dystonia: a treatable condition misdiagnosed as cerebral palsy.

Boyd, K.; Patterson, V H

doi:10.1136/bmj.298.6679.1019

Cited by 26 publications

(13 citation statements)

References 5 publications

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“…9 10 In recent years this already broad clinical spectrum has been expanded to include individuals with atypical or unusual presentations. [11][12][13][14][15][16][17] Within our family, two individuals were originally felt to have cerebral palsy by their treating physicians, and one also had scoliosis as her initial symptom. These atypical cases further compound the difficulty of making a clinical diagnosis of DRD.…”

Section: Discussionmentioning

confidence: 99%

Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?

Grimes

Barclay²,

Duff³

et al. 2002

Journal of Neurology, Neurosurgery &Amp; Psychiatry

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Background: Dopa responsive dystonia (DRD) is a disorder characterised by childhood onset dystonia but a wide range of clinical presentations has now been described. Objective: To study a large Canadian family with presumed DRD. Methods: The clinical features of the family were collected before molecular genetic mutational analysis. Results: All nine individuals in whom a clinical diagnosis of DRD was definite or probable were heterozygous for a GCH1 gene deletion. However, eight of nine possibly clinically affected members did not carry the GCH1 mutation. Conclusions: Great care must be taken in diagnosing DRD even in families with the classic phenotype, because of potential phenocopies of the disease.

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Section: Discussionmentioning

confidence: 99%

Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?

Grimes

Barclay²,

Duff³

et al. 2002

Journal of Neurology, Neurosurgery &Amp; Psychiatry

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“…Segawa disease, or DOPA-responsive dystonia (DRD) [14-20] is characterized by childhood-onset generalized dystonia, in which symptoms are mild in the morning and worsen throughout the course of the day (diurnal fluctuation) [21,22]. This disorder is defined by the dramatic improvement in symptoms upon administration of low doses of L-DOPA.…”

Section: Biological Levels Of Dysfunctionmentioning

confidence: 99%

Convergent mechanisms in etiologically-diverse dystonias

Thompson

Jinnah

Hess

2011

Expert Opinion on Therapeutic Targets

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Introduction Dystonia is a neurological disorder associated with twisting motions and abnormal postures, which compromise normal movements and can be both painful and debilitating. It can affect a single body part (focal), several contiguous regions (segmental), or the entire body (generalized), and can arise as a result of numerous causes, both genetic and acquired. Despite the diversity of causes and manifestations, shared clinical features suggest that common mechanisms of pathogenesis may underlie many dystonias. Areas Covered This review identifies shared themes in etiologically-diverse dystonias on several biological levels. At the cellular level, abnormalities in the dopaminergic system, mitochondrial function, and calcium regulation are discussed. At the anatomical level, the roles of the basal ganglia and the cerebellum in dystonia are described. Global central nervous system dysfunction, with regard to aberrant neuronal plasticity, inhibition, and sensorimotor integration is also discussed. Using clinical data and data from animal models, this article seeks to highlight shared pathways that may be critical in understanding mechanisms and identifying novel therapeutic strategies in dystonia. Expert Opinion Identifying shared features of pathogenesis can provide insight into the biological processes that underlie etiologically-diverse dystonias, and can suggest novel targets for therapeutic intervention that may be effective in a broad group of affected individuals.

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“…The clinical picture can be particularly confusing if hyperactive tendon reflexes are accompanied by pseudobabinski reflexes 14, 22. Lower limb dystonia, also frequently present in YOPD or ARJP, is a well known mimic of spastic paraparesis, regarding the gait disorder, the plantar reflex, and the hyperactive tendon reflexes 18, 19, 21, 38, 39. Davison mentioned scissoring gait in his patients, which is caused by adductor spasms and which is indeed common in spastic pararesis.…”

Section: Spasticity In Davison's Ppd/smentioning

confidence: 99%

Pallidopyramidal disease: A misnomer?

et al. 2010

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The combination of recessive early-onset parkinsonism and pyramidal tract signs caused by pallidopyramidal degeneration is known as pallidopyramidal disease or syndrome (PPD/S). We investigated whether patients diagnosed as Davison's PPD/S showed any definite proof of pyramidal and pallidal involvement, without findings suggestive of other nosological entities. Since Davison's original description, 15 other PPD/S cases have been reported, yet all lack proof of pyramidal or pallidal degeneration. Because of the dopa-responsiveness in all patients subsequent to Davison's report, we argue that these patients probably suffered from early-onset nigral parkinsonism or dopa-responsive dsystonia, rather than pallidal parkinsonism; in such cases, the presumed pyramidal Babinski could be a pseudobabinski ("striatal toe"). Secondary pallidopyramidal syndromes do occur, for example, in multiple system atrophy or Wilson's disease, but in these patients additional findings indicate diseases other than Davison's PPD/S. We conclude that the existence of PPD/S as a distinct clinico-pathological nosological entity, as proposed by Davison, is doubtful. In cases reported as Davison's PPD/S, the description "pallidopyramidal" seems to be a misnomer.

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Dopa responsive dystonia: a treatable condition misdiagnosed as cerebral palsy.

Cited by 26 publications

References 5 publications

Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?

Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?

Convergent mechanisms in etiologically-diverse dystonias

Pallidopyramidal disease: A misnomer?

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