bent spine syndrome

BACKGROUND: Late-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 PRESENTATION: A 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...

OBJECTIVE: Visceral adipose tissue (VAT) is associated with an increased risk of metabolic syndrome (MetS). Recent studies have suggested that VAT negatively affects bone. However, MetS has also been associated with higher estradiol (E2) levels, which is bone protective. We therefore investigated the impact of VAT and E2 levels on bone density, structural parameters, and strength estimates. DESIGN: A cross-sectional study was conducted in 72 obese men with MetS to investigate the impact of VAT and E2 levels on bone...

CONTEXT: Metabolic syndrome (MetS) is associated with low-grade inflammation, which may harmfully affect bone. Resveratrol (RSV) possesses anti-inflammatory properties, and rodent studies suggest bone protective effects. OBJECTIVE: This study sought to evaluate effects of RSV treatment on bone in men with MetS. SETTING AND DESIGN: The study was conducted at Aarhus University Hospital as a randomized, double-blinded, placebo-controlled trial assessing changes in bone turnover markers, bone mineral density (BMD), and geometry...

OBJECTIVE: Bent spine syndrome (BSS), defined as an abnormal forward flexion of the trunk resolving in supine position, is usually related to parkinsonism, but can also be encountered in myopathies. This study evaluates whole-body muscle MRI (WB-mMRI) as a tool for detecting underlying myopathy in non-extrapyramidal BSS. MATERIALS AND METHODS: Forty-three patients (90 % women; 53-86 years old) with a non-extrapyramidal BSS were prospectively included. All underwent a 1...

Myotonic dystrophy type 1 (DM1) is highly variable systemic disorder with prominent myopathic involvement in distal limb, facial, and jaw muscles. Bent spine syndrome presents a diagnostic challenge, and usually, DM1 is not included in the differential. We report 2 cases of DM1 with bent spine syndrome. To further investigate this phenomenon, we compared weakness patterns in a cohort of DM1 with cohorts of amyotrophic lateral sclerosis and inclusion body myositis and found that neck extension weakness is most pronounced in DM1...

In this society with an ever increasing number of the elderly there is an increasing number of causes of a bent spine syndrome (camptocormia/dropped head syndrome). The causes include neurological, neuro-orthopedic, rheumatological and psychiatric disorders. Parkinson's disease, dystonia and neuromuscular diseases (motor neuron disease, myositis and muscular dystrophy) with weakness of the axial muscles may result in bent spine syndrome and is often combined with a dropped head. Disc herniation, hypertrophic spondylosis or pseudospondylolisthesis with spinal narrowing may lead to an abnormal flexion of the trunk...

BACKGROUND: Adult central movement disorders, malpostures, and scolioses can have their cause in various neurological underlying diseases such as Morbus Parkinson, Pisa syndrome, or segmental dystonia. Important clinical characteristics are marked postural distortions such as camptocormia (bent spine) or laterocollis. In cases of these adult scolioses, surgical spine treatment puts high demands on the surgeon. Surgery in Parkinson's disease, for example, is associated with serious surgery-specific as well as general complications...

Wild-type and mutant transthyretin (TTR) are implicated in systemic amyloidosis (ATTR). Myopathy is a rare complication of ATTR amyloidosis, however no patient with bent spine syndrome secondary to ATTR amyloidosis has been reported so far. We present the first case of bent spine syndrome in a patient with wild-type ATTR amyloidosis who also had concomitant Alzheimer's disease.

Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of inherited neuromuscular disorders and have been associated with a wide clinical spectrum, ranging from various congenital myopathies to the malignant hyperthermia susceptibility (MHS) trait without any associated weakness. RYR1-related myopathies are usually of early-childhood onset. Here we present 11 patients from 8 families with a late-onset axial myopathy associated with RYR1 variants. Patients presented between the third and seventh decade of life to neuromuscular centres in Norway, the Netherlands and the United Kingdom with predominant axial muscle involvement, comprising variable degrees of lumbar hyperlordosis, scapular winging and/or camptocormia...

PURPOSE AND METHODS: We reviewed the management, failure modes, and outcomes of 196 patients treated for infectious spondylodiscitis between January 1, 2000 and December 31, 2010, at the Spinal Unit, Aarhus University Hospital, Aarhus, Denmark. Patients with infectious spondylodiscitis at the site of previous spinal instrumentation, spinal metastases, and tuberculous and fungal spondylodiscitis were excluded. RESULTS: Mean age at the time of treatment was 59 (range 1-89) years...

INTRODUCTION: Camptocormia, or bent spine syndrome, is an abnormal posture consisting of forward flexion of the spine that disappears when a patient is supine. It is associated with a wide variety of myopathic disorders that affect paraspinal muscles, including inflammatory and inherited myopathies. METHODS: We describe a woman who presented with camptocormia in her eighth decade. RESULTS: Skeletal muscle biopsy showed mild nonspecific changes, but her family history was significant for a son who died of Duchenne muscular dystrophy (DMD)...

AIMS: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). METHODS: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n = 49), assessed by dual-energy X-ray absorptiometry, bone markers and hormones. TS patients were divided into a young group receiving ('ongoing') GH (n = 15) and an older group previously receiving ('previous') GH (n = 22)...

BACKGROUND: Involvement of the gluteus medius muscle has been reported in girdle myopathies or facioscapulohumeral myopathies. Camptocormia, or Bent spine syndrome, characterized by involuntary forward flexion of the trunk in the standing position, may be secondary to a late-onset myopathy essentially involving the spinal erector muscles. In this article, we report the observations of patients with severe deficiency of the gluteus medius, suggesting a late-onset myopathy. METHODS: Computed tomography and magnetic resonance imaging (MRI) were performed in 17 patients, with a mean age 76 years, 3 men and 14 women, presenting a Trendelenburg limp related to fatty infiltration of the gluteus medius muscles...

Dysferlin is a sarcolemmal protein that plays an important role in patching defects in skeletal membrane by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene can lead to a variety of clinical phenotypes. Affected individuals usually present with early involvement of the posterior calf muscles (Miyoshi myopathy) in their teens or early twenties, but can present with proximal greater than distal weakness similar to other limb-girdle muscular dystrophies (LGMD2B), with anterior tibial weakness, an axial myopathy (e...

PURPOSE: To identify and highlight the variable causes of camptocormia. METHOD: Literature review. RESULTS: Camptocormia (bent spine syndrome) is an acquired postural disease characterised by forward flexion of the thoraco-lumbar spine. Camptocormia leads to lumbar kyphosis and increases during walking or standing and completely disappears in supine position. Camptocormia is multicausal due to central or peripheral nervous system disease, idiopathic or due to some rare conditions...

This review aimed to characterize the gait disturbances in Parkinson disease (PD) and highlight how a rehabilitation program would affect the care of patients with PD. The typical PD gait is a type of hypokinetic gait characterized by reduced stride length and velocity; shortening of the swing phase; and increase in the stance phase, double-limb support duration, and cadence rate. In the advanced phase of PD, start hesitation, shuffling and festinating gait, propulsion, and freezing of gait (FOG) become remarkable...

BACKGROUND: Variation in normal anatomy of costal surface of scapula may disrupt smooth scapulothoracic movements and may cause snapping scapula. The aim of this study was to assess variable anatomy of costal surface of scapula and its role in etiopathogenesis of snapping scapula syndrome. MATERIALS AND METHODS: Superomedial angle, depth of costal surface, forward angulation of root of coracoid process and thickness of superior and inferior angles of 92 dry intact adult scapulae of unknown sex were studied...

Camptocormia, or "bent spine syndrome", may occur in various movement disorders such as primary dystonia or idiopathic Parkinson's disease (PD). Although deep brain stimulation (DBS) is an established treatment in refractory primary dystonia and advanced PD, few data are available on the effect of DBS on camptocormia comparing these two conditions. Seven patients (4 with dystonia, 3 with PD; mean age 60.3 years at surgery, range 39-73 years) with camptocormia were included in the study. Five patients underwent bilateral GPi DBS and two patients underwent bilateral STN DBS guided by CT-stereotactic surgery and microelectrode recording...

Camptocormia or 'bent spine syndrome' is a rare manifestation of Parkinson's disease. The postural deformity can be a great source of disability. Camptocormia is typically not responsive to dopaminergic medication. Results with deep brain stimulation to treat camptocormia have been mixed but generally poor. The authors report two cases of camptocormia in Parkinson's disease treated with spinal corrective surgery. Despite prolonged postoperative courses, including a high complication rate and the need for multiple revisions, both patients benefited from the procedures...

Several subtypes of facioscapulohumeral muscular dystrophy (FSHD) with atypical clinical presentation have been described. We report a new, distinct phenotype with progressive bent spine syndrome solely affecting the paraspinal muscles. Magnetic resonance imaging study of the lumbar spine revealed marked atrophy of the paraspinal muscles. The diagnosis was confirmed by DNA testing, which revealed shortened restriction fragments of the D4Z4 repeat on haplotype A in connection with a positive family history.