Objective: Describe a case of DYT5/DYT-GCH1 presenting with an ataxic-spastic gait

Background: DYT5/DYT-GCH1 is an autosomal dominant disease typically characterized by lower limb dystonia starting in childhood and showing excellent response to levodopa therapy. The occurrence of levodopa-induced dyskinesias is rare and usually non-disabling.

Method: A case report.

Results: A 67-year-old woman presented with a progressive gait impairment, since her third decade of life, characterized by imbalance and a feeling of stumbling over her feet. These symptoms appear to be worse at the end of the day. Medical history is positive for a right foot deformity since childhood. The patient also reports being followed in Neurology consultation for multiple years with the suspicion of hereditary ataxia, which was never confirmed. Neurological examination revealed a wide-based gait with decreased knee flexion in a spastic pattern, as well as bilateral foot dystonia worse on the right side, without appendicular ataxia or spasticity. Brain MRI was normal. The patient started levodopa therapy with significant improvement of her symptoms but with the development of dyskinesias in both upper limbs. Family history includes a 72-year-old sister with similar complaints and a similar ataxic-spastic gait, without dystonic postures. Similarly, she responded well to levodopa but developed dyskinesias in both hands. Genetic testing revealed a pathological variant in heterozygosity in the GCH1 gene, confirming the diagnosis of DYT5/DYT-GCH1.

Conclusion: DYT5/DYT-GCH1 typically presents with foot dystonia and a gait with equine posture. A detailed history since childhood is essential in suspecting dopa-responsive dystonia in late adulthood. The occurrence of levodopa-induced dyskinesias is an uncommon finding.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/ataxic-spastic-gait-a-form-of-presentation-of-dyt5-dyt-gch1/