Clinical features and natural history of axial predominant adult onset primary dystonia

Abstract

The clinical features and natural history of 18 patients with adult onset axial predominant severe truncal primary dystonia are presented. The mean age of onset was 41 (42 for men, 39 for women) and there was a higher proportion of men (10:8). Analysis of their clinical features and follow up over three to five years or more showed that these patients generally conform to the characteristics of other types of adult onset primary dystonias. They tended to remain focal although there could be an initial contiguous spread, sometimes beginning in the craniocervical region and spreading axially or, rarely, vice versa. If spread occurred, involvement of the head, neck, and arms was mild in comparison with the severe dystonia of the trunk. However, in none of the patients with craniocervical or truncal onset did the dystonia spread to involve the legs. More than a third (seven of 18) of the patients had a prior history of injury at the site subsequently aVected by dystonia. Treatment response to various drugs overall was poor but a third of the patients improved on treatment either with triple therapy (a combination of tetrabenazine, pimozide, and an anticholinergic drug) or high dose anticholinergic drugs alone. Severe depression occurred in 33% of patients, mainly due to the negative personal image arising from their disfiguring dystonia. None of the patients had a family history of dystonia and at the moment it is unclear whether these patients with sporadic axial dystonia are non-genetic phenocopies or are a manifestation of one or more of the genes that cause generalised dystonia or torticollis.

Parkinson's disease with camptocormia

“…This feature, along with the fact that this postural disorder of the trunk disappeared in the supine position, is consistent with the definition of axial 41 or action dystonia. 42 None of the patients had, however, a history of multiple lumbar disc hernia or laminectomy 43 (which would have suggested a peripherally induced axial dystonia 15 ), although camptocormia developed in a rapidly progressive manner with mild to severe back pain in several patients. These results are consistent with those of Djaldetti et al, 17 who reported that camptocormia was painless in five of eight patients with Parkinson's disease with camptocormia.…”

Successful GPi deep brain stimulation in a patient with adult onset primary axial dystonia

“…Typically, patients present with cranio-cervical dystonia spreading to the trunk but not to the extremities. Affected patients are disabled predominantly by flexion spasms of the trunk which are worsened on action, especially during standing and walking 1. Response to drug therapy is often poor and local botulinum toxin injections are of limited value in these patients.…”

Familial camptocormia: from dystonia to myopathy: Table 1

“…This case also illustrates the difficulty in distinguishing between a geste antagoniste and compensatory movements made to overcome weakness or pain. In this case, a presentation of camptocormia with a manoeuvre, which was not a sensory trick, was misconstrued as idiopathic axial dystonia 10. Examination of the trunk extension is paramount not to miss weakness limited to the paraspinal muscles even in patients with a provisional diagnosis of dystonia or Parkinsonism.…”