Paraspinal neuromuscular syndromes

Thomas Klopstock MD (Dr. Klopstock of Ludwig Maximilian University of Munich received research grants and consultation fees from Santhera.)
Michio Hirano MD, editor. (Dr. Hirano of Columbia University has no relevant financial relationships to disclose.)
Originally released December 9, 2002; last updated March 29, 2015; expires March 29, 2018

This article includes discussion of paraspinal neuromuscular syndromes, bent spine syndrome, floppy head syndrome, isolated neck extensor myopathy, and primary camptocormia. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Neuromuscular syndromes of the paraspinal muscles comprise the dropped head syndrome and the bent spine syndrome (camptocormia). Although these phenotypes also occur in conjunction with dystonia or Parkinson disease, large series suggest that the majority of cases are due to an isolated paraspinal myopathy or are a prominent part of a more widespread myopathy, neuropathy, or motor neuron disease. Even camptocormia and dropped head syndrome in Parkinson disease are often due to myopathic changes in the paraspinal muscles. In this article, the author discusses advantages and disadvantages of paraspinal muscle biopsies for diagnostic purposes. In any event, histology has to be interpreted with caution because these particular muscles show a variety of neuromuscular abnormalities even in healthy subjects.

Key points

 

• Weakness of the paraspinal muscles may lead to dropped head syndrome or bent spine syndrome (camptocormia).

 

• The phenotypes of the dropped head and bent spine syndromes may be caused by many underlying etiologies, but the majority of cases seem to be due to an isolated paraspinal myopathy or provide a prominent sign of a more widespread myopathy.

 

• Clarifying the etiology in every single case has an impact on therapy because dystonic forms may respond to sensory tricks or botulinum toxin therapy, and parkinsonian forms may respond well to deep brain stimulation.

Historical note and terminology

In 1986, Lange and colleagues described severe neck extensor weakness, using the term “floppy head syndrome” (Lange et al 1986). The floppy head syndrome occurred as part of a generalized neuromuscular disorder, such as myasthenia gravis, polymyositis, or motor neuron disease, in 9 of 12 patients; in the other 3 there was no apparent cause for the neck weakness. In 1992, Suarez and Kelly elaborated on the same clinical manifestations, now favoring the words “dropped head syndrome” (Suarez and Kelly 1992). They described 4 patients with a noninflammatory myopathy primarily affecting the lower cervical and upper thoracic paraspinal muscles. The patients had mild limb girdle weakness in addition to severe neck weakness. A subsequent report suggested that an important cause of the head drop is an isolated myopathy of the neck extensor muscles (Katz et al 1996). These patients did not have extremity weakness, and using the term “isolated neck extensor myopathy,” a specific disorder was distinguished from other neuromuscular conditions that also cause neck weakness. In contrast, the terms “dropped head syndrome” or “dropped head sign” are best used to describe the phenomenology regardless of the underlying cause.

A related disorder of paraspinal muscles has been referred to as the “bent spine syndrome” or “camptocormia.” The latter is derived from the Greek: kamptos for bent and kormos for trunk. The French neurologist Souques first recognized this syndrome during World War I in soldiers who acutely developed an anteriorly flexed trunk (Karbowski 1999). That condition was thought to be psychogenic and lasted only a few months. In the last decades, however, camptocormia has been described in association with Parkinson disease (Djaldetti et al 1999), multiple system atrophy (Askmark et al 2001), dystonias (Reichel et al 2001), and other neuromuscular disorders marked by weakness of the thoracic, lumbar, or sacral paraspinal muscles (Serratrice 1996; Umapathi et al 2002). As with the dropped head syndrome, the differential diagnosis in patients with a bent spine includes other generalized neuromuscular disorders and an isolated focal paraspinal myopathy.

In a large retrospective series of 63 patients with bent spine syndrome, 40 had isolated paraspinal myopathy with fatty infiltration and lobular endomysial fibrosis; 19 had more widespread signs of myopathy (including 8 cases of limb girdle muscular dystrophy, 3 myotonic dystrophy type I, 2 facioscapulohumeral dystrophy, and 2 inclusion body myositis); and 4 had Parkinson disease without paraspinal myopathy (Laroche and Cintas 2010). On the other hand, there is some evidence that camptocormia and head drop syndrome in Parkinson disease are predominantly myopathic. In a series of 17 Parkinson patients with camptocormia or head drop, 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 (Spuler et al 2010). The authors speculate that aberrant protein aggregation may link Parkinson disease and camptocormia. It is not clear whether the classic “stooped” appearance of parkinsonian patients represents mild forms of antecollis/camptocormia. This uncertainty reflects the lack of a clear clinical definition and the different thresholds that physicians use for diagnosis. Most authors propose that a marked (minimum 45°) flexion in the sagittal plane should be required to diagnose antecollis and camptocormia, respectively. It seems likely, however, that the postural deformities in Parkinson disease have a multifactorial pathophysiology. Contributing factors include muscular rigidity, axial dystonia, weakness caused by myopathy, body scheme defects, and structural changes in the spine. Clarification of the relative contribution of these different factors may help to define clear diagnostic criteria and ultimately lead to improved treatment approaches (Doherty et al 2011).

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