Respiratory manifestations of rigid spine syndrome.

Ras, G J; Staden, M. van; Schultz, Cedric; Stübgen, J P; Lotz, Barend P.; Merwe, CJ van der

doi:10.1164/ajrccm.150.2.8049843

Cited by 21 publications

(12 citation statements)

References 24 publications

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“…We doubted that dysphagia occurred secondary to respiratory problems, because swallowing complaints were not consistently associated with markers of respiratory disease such as cough, dyspnea, history of pneumonia, or ventilatory failure [13]. It was possible that dysphagia resulted from surgical procedures to the neck such as corrective cervicothoracic spinal fusion surgery or tracheostomy.…”

Section: Discussionmentioning

confidence: 99%

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Rigid Spine Syndrome: A Radiologic and Manometric Study of the Pharynx and Esophagus

Stübgen

2007

Dysphagia

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The rigid spine syndrome (RSS) is not a recognized cause of dysphagia. The "vacuolar variant" of RSS causes mild, generalized, and slowly progressive weakness. Respiratory evaluation detected severe restrictive chest wall defect and significant respiratory muscle weakness. We identified nine patients at our Neuromuscular Clinic over a period of years. The aim of this evaluation was to ascertain whether pharyngoesophageal dysfunction caused cough (2/9), intermittent oropharyngeal dysphagia (4/9), and aspiration pneumonia (3/9). Pharyngeal and esophageal functions were evaluated separately by conventional cineradiography and intraluminal esophageal manometry over a one-year study period. An age-and gender-matched volunteer group without swallowing complaints partook in the manometric component of the study. There were seven male and two female patients. The mean age of patients was 19.1 years (17.8 years for controls), and the age range was 11-36 years (13-32 years for controls). The mean disease duration was 17.2 years (range = 8-31 years). Patients were commonly underweight (7/9). Cineradiology detected abnormal swallow physiology of pharyngeal striated muscle (1/9) and of esophageal smooth muscle (2/9). Mean manometric pressures in patients were not significantly different from control data. Manometry detected "nonspecific" contractility abnormalities (3/9) that were not reflected in the mean data. The relative lack of instrumental findings suggested minor upper alimentary tract dysmotility in patients with the RSS. The myopathy that underlies this syndrome likely caused dysfunction of the striated muscle of the pharyngeal constrictors and upper esophageal sphincter. The documented abnormalities of esophageal smooth muscle motility were nonspecific and tenuously associated with the muscle disorder. The incongruity between complaints of intermittent dysphagia and study results was perhaps due to transient pharyngoesophageal dysmotility, altered swallowing mechanics of limited cervical spine mobility, altered swallowing perception after previous intubation/tracheostomy, or a "functional" upper intestinal complaint. Joerg-Patrick Stübgen MD

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Section: Discussionmentioning

confidence: 99%

“…Subsequent respiratory evaluation of patients demonstrated a severe restrictive chest wall defect and clinically significant respiratory muscle weakness that led to hypercapnic ventilatory failure in some patients [13]. Acute respiratory failure that required assisted ventilation developed in some patients and was triggered by bouts of bronchopneumonia.…”

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confidence: 99%

Rigid Spine Syndrome: A Radiologic and Manometric Study of the Pharynx and Esophagus

Stübgen

2007

Dysphagia

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“…We reported on the severe restrictive chest wall defect and limited mobility of the spine associated with clinically significant respiratory muscle weakness [15]. This slowly progressive respiratory muscle disease led to hypercapnic ventilatory failure in some patients.…”

Section: Discussionmentioning

confidence: 99%

“…The term "vacuolar variant" of RSS was proposed [10]. The respiratory manifestations of these patients included severe restrictive chest wall defect and limited mobility of the spine associated with clinically significant respiratory muscle weakness [15]. In some patients the slowly progressive respiratory muscle disease led to hypercapnic ventilatory failure.…”

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confidence: 99%

Rigid Spine Syndrome: A Noninvasive Cardiac Evaluation

Stübgen

2007

Pediatr Cardiol

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Rigid spine syndrome (RSS) is a group of childhood-onset muscle disorders characterized by marked limitation of flexion of the spine. Various cardiac changes have been documented in case reports. This study reports on a cardiac evaluation of nine patients with the "vacuolar variant" of RSS. Noninvasive cardiac evaluation entailed creatine kinase levels, full-inspiration chest roentgenograms, standard 12-lead ECG, and 24-h ambulatory ECG recording, as well as M-mode and two-dimensional echocardiography with Doppler study. Heart auscultation was abnormal in five patients. Creatine kinase MB fraction was normal in all patients. Chest roentgenogram showed scoliosis (five of nine), kyphosis (one of nine), severe anterior-posterior flattening of the chest cavity (two of nine), elevated hemidiaphragm (one of nine), caved-in appearance of upper lobes (two of nine), and symmetry of lung volumes (one of nine). Twelve-lead ECG abnormalities indicated right-sided heart disease (three of nine). Echocardiogram showed mitral valve prolapse (five of nine) with regurgitation (three of five) and evidence of pulmonary hypertension (three of nine). Ambulatory ECG recorded paroxysmal tachyarrhythmias in hypoxic or hypercapnic patients (three of nine). There was no correlation between any cardiac abnormalities and patient weakness. Mitral prolapse/regurgitation may have a developmental association with this congenital myopathy. Findings of cor pulmonale were due to the restrictive chest wall defect and respiratory muscle weakness. Paroxysmal tachyarrhythmias were due to hypoxia or hypercapnia. There was no evidence of a primary cardiomyopathy.Rigid spine syndrome (RSS) is a rare childhood-onset muscle disorder characterized by marked limitation of flexion of the spine; progressive scoliosis; contracture of limb joints, especially the elbows; mild and nonprogressive, proximal weakness; moderately elevated muscle enzymes; a "myopathic" electromyogram pattern in spinal muscles; and histologic features of a nonspecific myopathy with marked fibrosis [5,6]. Doubts have been expressed whether RSS is a single nosologic entity, as the hereditary patterns,

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“…Bei der polysomnographischen Kontrolle 3 Monate nach Therapiebeginn zeigte sich erneut eine REM-assoziierte Störung, die dadurch bedingt funktionellen Beeinträchtigung der Atem(hilfs)muskulatur kommt es bei betroffenen Patienten mit fortschreitendem Alter zu restriktiven Lungenfunktionseinschränkungen mit Hyperkapnie [10,14,15], die schließlich zur lebenslimitierenden respiratorischen Insuffizienz führen.…”

Section: Introductionunclassified