Camptocormia: A Rare Axial Myopathy Disease

Shinjo, Samuel Katsuyuki; Torres, Silvia Carolina Ramos; A, Radu

doi:10.1590/s1807-59322008000300024

Cited by 10 publications

(3 citation statements)

References 16 publications

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“…Bent spine and dropped head syndromes are characterized by an abnormal flexion of the trunk and neck appearing in standing or walking position, both of which can also be called as axial myopathy [ 17 ]. Axial myopathy is mainly caused by weakness of the paravertebral muscles related to degradation of the muscular tissues, independently of the increasing age [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review

et al. 2015

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BackgroundLate-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive inherited disease of metabolic dysfunction clinically characterized by fluctuating proximal muscle weakness, excise intolerance, and dramatic riboflavin responsiveness. Dropped head syndrome can occasionally be observed in some severe patients with late-onset MADD; however, bent spine syndrome as an initial symptom had not been reported in patients with late-onset MADD.Case presentationA 46-year-old man lost the ability to hold his trunk upright, and had difficulty in raising his head, but he had no obvious symptoms of limb weakness. Meanwhile, he developed persistent numbness of limbs and lips around. Myopathological features and combined elevation of multiple acylcarnitines indicated that the axial myopathy might be caused by lipid storage myopathy. Cervical and lumbosacral MRI revealed a lot of abnormal signals diffusing along paravertebral muscles, while the abnormal signals almost disappeared after riboflavin treatment. Nerve conduction study indicated the patient suffering from predominantly sensory neuropathy and mildly motor neuropathy. Muscle pathology also demonstrated no typical neurogenic change, which was consistent with the electrophysiological findings. Causative mutations were found in the ETFDH gene.ConclusionWe report the first case of late-onset MADD with sensory neuropathy initially manifesting as bent spine syndrome and dropped head syndrome.

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Section: Discussionmentioning

confidence: 99%

Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review

et al. 2015

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“…As the co‐occurrence of CC and PD has been recognized5, 11 various possible physiopathological mechanisms of parkinsonian CC have been discussed. The etiologies proposed include central mechanisms like a new form of dystonia in PD,6, 12, 13 selective form of PD with CC‐specific brainstem dysfunction,10 as well as muscular involvement like primary myopathy of the back extensor muscles8, 14, 15 or myositis of paraspinal muscles 7, 9. The latter is supported by biopsies of paraspinal muscles in patients without PD suffering from CC showing CC be linked with muscular pathology 16, 17.…”

Section: Introductionmentioning

confidence: 97%

Myopathy causing camptocormia in idiopathic Parkinson's disease: A multidisciplinary approach

et al. 2010

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Extreme forward flexion of the spine, named camptocormia (CC), and head drop syndrome (HD) may be among the most disabling symptoms in Parkinson's disease (PD). This study aims to eludicate the etiology of PD-associated CC and HD via a multidisciplinary approach (clinical examination, electromyography, MRI, genetic analysis, muscle morphology) centering on the histology of the paraspinal muscles. We studied 17 patients with the clinical diagnosis of PD and CC or head drop syndrome and six controls. We performed muscle biopsies of paraspinal muscles and deep neck extensor muscles. Mean age at onset of postural abnormality was 66 years and mean latency between onset of parkinsonian symptoms to first signs of CC or head drop was 7 years. The electromyogram of paraspinal muscles was abnormal in 13-14 patients. Histopathology revealed chronic myopathic changes in 14 of 17 biopsies, consisting of abnormal variation in fiber size, increase in internal nuclei, and increase in connective tissue, myofibrillar disarray and similarities to protein surplus myopathies. Interestingly, heterozygous variants in the Parkin gene were found in 2 of 9 investigated patients. We conclude that CC and HD in PD are predominantly myopathic. Aberrant protein aggregation may link PD and CC.

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“…We propose that geste antagoniste maneuvers, or sensory tricks override failing tonogenic pathways either with voluntary cortical commands or via augmented sensory inputs to modulate postural muscle tone directly (Franzén et al 2011). There are many reports of camptocormia responding well to sensory tricks, including wearing a backpack (Gerton et al 2010), touching a support (Azher and Jankovic 2005;Shinjo et al 2008), and walking backward (Van Gerpen and Van Gerpen 2006). We observed an improvement with each of these tricks as well as some new ones: auditory and visual biofeedback.…”

Section: Discussionmentioning

confidence: 74%

Case Studies in Neuroscience: A dissociation of balance and posture demonstrated by camptocormia

George

Gurfinkel

Kraakevik

et al. 2018

Journal of Neurophysiology

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Upright stance in humans requires an intricate exchange between the neural mechanisms that control balance and those that control posture; however, the distinction between these control systems is hard to discern in healthy subjects. By studying balance and postural control of a participant with camptocormia - an involuntary flexion of the trunk during standing that resolves when supine - a divergence between balance and postural control was revealed. A kinematic and kinetic investigation of standing and walking showed a stereotyped flexion of the upper body by almost 80° over a few minutes, and yet the participant's ability to control center of mass within the base of support and to compensate for external perturbations remained intact. This unique case also revealed the involvement of automatic, tonic control of the paraspinal muscles during standing and the effects of attention. Although strength was reduced and MRI showed a reduction in muscle mass, there was sufficient strength to maintain an upright posture under voluntary control and when using geste antagoniste maneuvers or "sensory tricks" from visual, auditory, and haptic biofeedback. Dual tasks that either increased or decreased the attention given to postural alignment would decrease or increase the postural flexion, respectively. The custom-made "twister" device that measured axial resistance to slow passive rotation revealed abnormalities in axial muscle tone distribution during standing. The results suggest that the disorder in this case was due to a disruption in the automatic, tonic drive to the postural muscles and that myogenic changes were secondary. NEW & NOTEWORTHY By studying an idiopathic camptocormia case with a detailed biomechanical and sensorimotor approach, we have demonstrated unique insights into the neural control of human bipedalism 1) balance and postural control cannot be considered the same neural process, as there is a stereotyped abnormal flexed posture, without balance deficits, associated with camptocormia, and 2) posture during standing is controlled by automatic axial tone but "sensory tricks" involving sensory biofeedback to direct voluntary attention to postural alignment can override, when required.

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Camptocormia: A Rare Axial Myopathy Disease

Cited by 10 publications

References 16 publications

Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review

Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review

Myopathy causing camptocormia in idiopathic Parkinson's disease: A multidisciplinary approach

Case Studies in Neuroscience: A dissociation of balance and posture demonstrated by camptocormia

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