Dystonia in Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy

Abstract

Adult-onset dystonia-parkinsonism is a syndrome in search of a pathology. We therefore reviewed the literature on dystonic manifestations in autopsy-proven cases of multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and idiopathic Parkinson's disease (PD). Only 6 of 140 autopsy reports of MSA remarked on the presence of dystonia in life, but personal observations suggest prominent antecollis may develop at some stage in up to 1/2 of sufferers. Similarly, very few (15/118) clinicopathologic observations on PSP included convincing dystonic manifestations, in contrast to some clinical reports where blepharospasm and early limb dystonia were prominent. Virtually any form of focal and segmental dystonia may sometimes occur with clinically diagnosed PD, with occasional descriptions of hemidystonia-hemiparkinsonism. However, there is pathologic confirmation of this diagnosis in only 1 case. With many patients thought clinically to have PD proving pathologically to have another cause for their parkinsonism, the true frequency and the range of dystonic manifestations acceptable in PD remain unknown.

Clinical features of dystonia in atypical parkinsonism

“…A common form of dystonia in patients with MSA is a severe, isolated anterocollis 5,11 . In our group of patients with MSA, only three subjects presented cervical dystonia (2 anterocollis and 1 retrocollis).…”

“…A rigid, dystonic posture arm with some fingers extended and others forcibly flexed into the palm causing skin maceration characteristically develops early in the course of the illness in a substantial minority of patients 5,22 . Jerking of the affected limb due to action-induced and stimulus sensitive focal reflex myoclonus commonly precedes or accompanies the development of such dystonic postures and, if rhythmic, may mimic tremor 23 .…”

“…Anterocollis certainly occurs in MSA, but may not be a true dystonia and more likely represents a special imbalance of rigidity in neck muscles producing a sustained posturing. Frequently, the MSA patients exhibit orofacial dystonia associated with a characteristic high-pitched dysarthria In patients with PSP, late dystonic posturing of the limbs could represent contractures, and eye-lid elevator inhibition may have been confused with blepharoespasm 5 . on the other hand, asymmetrical limb dystonia is a typical feature of patients with Corticobasal degeneration (CBD).…”

Dystonia in Parkinsonian Syndromes

“…Several dystonic conditions exist: pretreatment dystonia, peak dose dystonia, early morning dystonia and off period dystonia (3). Of which, the most common dystonic condition is off-state lower extremity painful dystonia (2,5). With regards to the area of involvement, Sheffield et al reported a frequency of 10% for facial dystonia, 10% for cervical, 30% for leg, 17.5% for arm and 7.5% for trunk dystonia (5).…”

“…In one Brazilian study, dystonia was observed in up to 50% of patients with "atypical parkinsonism" (1). It is also a prominent feature in various hereditary and neurodegenerative conditions implicating the basal ganglia such as Huntington's disease, Wilson's disease, familial basal ganglia calcifications and neurodegeneration with brain iron accumulation (NBAI) (2). Moreover, we have to keep in mind that a proportion of patient thought to have idiopathic Parkinson's disease (PD) may later be found to have a different parkinsonian syndrome.…”