Dystonia

Dystonia manifests as a sustained abnormal posture produced by contraction of large trunk and limb muscles, e.g. sustained head retraction . . . Dystonias may be: generalised - idiopathic torsion dystonia, or partial (focal), e.g. spasmodic torticollis. * The precise neuropathological basis of dystonia is uncertain. Vascular and traumatic lesions of the putamen occasionally produce this movement disorder.

IDIOPATHIC TORSION DYSTONIA (DYSTONIA MUSCULORUM DEFORMANS)

Onset in childhood. Sporadic or dominant inheritance. Recent genetic linkage studies have localised dominantly inherited disease to chromosome 9. Initially, a flexion deformity of leg develops when walking. Movements then become generalised with abnormal posturing of head, trunk and limbs. They arc initially intermittent but ultimately constant. Despite eventual gross contortion the postures disappear during sleep.

Diagnosis is made on clinical grounds and by exclusion of other disorders. - EMG studies show inappropriate co-contraction of antagonistic muscle groups. Pathology: No known pathological substrate.

Treatment: levodopa or carbamezapine are of benefit in some patients; anticholinergics help in others. A small proportion are dramatically dopa-responsive.

Stereotactic surgery - a lesion in the region of the ventrolateral nucleus of the thalamus may reduce the dystonia in the contralateral limb.

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