Camptocormia: don’t forget muscle disease in the movement disorder clinic

Autor: Andrew J. Lees, Laura Silveira-Moriyama, Nir Giladi, Karen M. Doherty, Matt Parton, Kailash P. Bhatia
Rok vydání: 2012
Předmět:
Zdroj: Journal of Neurology. 259:1752-1754
ISSN: 1432-1459
0340-5354
DOI: 10.1007/s00415-012-6448-z
Popis: The cause of isolated camptocormia or ‘bent spine syndrome’ is various and often difficult to establish [1]. Patients may present to neurologists or musculoskeletal specialists but many remain without diagnosis. We recently reported a patient with camptocormia due to facioscapulohumeral dystrophy (FSHD) that had been initially diagnosed as idiopathic axial dystonia in a movement disorder clinic [2]. A second case of muscle disease masquerading as dystonia has now come to light. In this report we provide helpful diagnostic pointers that may help neurologists to pick up these cases and avoid inappropriate treatment. The patient was of non-consanguineous Ashkenazi Jewish descent. She first presented to a neurologist at the age of 66 with a 9-year history of involuntary bending of her spine when walking. Any attempt to overcome the forward flexion led to shortness of breath and increased difficulty walking. Pushing a shopping trolley caused significant improvement in her posture. She also complained of a tight band sensation around her upper abdomen. She had a past history of rheumatic fever at 8 years of age (no history of chorea) with subsequent mitral valve disease necessitating replacement with a prosthetic metal valve at the age of 46. Six years before presentation she had an episode of presumed polymyalgia rheumatica (based on symptoms of pain and stiffness around her neck, shoulders and upper arms and an elevated ESR—between 40–50 mm/h), which settled with a short course of steroids. She also had an 8-year history of deafness in the left ear. Her medications included warfarin, digoxin, bisoprolol, losartan, furosemide, spironolactone and quinine sulphate. She had never been exposed to dopamine blocking drugs. Her mother had a similar posture in her later years. On examination she had spontaneous flexion of the trunk, which worsened the further she walked. Using a rollator or placing her hands on her thighs enabled her to straighten her trunk (video). There was no fixed deformity when lying supine, and spinal imaging revealed multi-level degenerative changes but no spinal cord compression or radiculopathy. She was diagnosed with camptocormia due to idiopathic axial dystonia. DYT1 testing was negative. Focal myopathy was considered a possible cause but electromyography was felt to be contraindicated due to her treatment with warfarin. L-dopa (150 mg/day), anticholinergic drugs (trihexyphenidyl 6 mg/day and tetrabenazine 12.5 mg/day) Electronic supplementary material The online version of this article (doi:10.1007/s00415-012-6448-z) contains supplementary material, which is available to authorized users.
Databáze: OpenAIRE
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