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bent spine syndrome

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https://www.readbyqxmd.com/read/27862019/bent-spine-syndrome-as-the-initial-symptom-of-late-onset-pompe-disease
#1
Nicolas Taisne, Claude Desnuelle, Raul Juntas Morales, Xavier Ferrer Monasterio, Sabrina Sacconi, Fanny Duval, Guilhem Sole, René Marc Flipo, Arnaud Lacour, Patrick Vermersch, Thierry Cardon
INTRODUCTION: Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available. METHODS: Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases. RESULTS: The patients (3 women and 1 man) had a mean age of 64 years (range 51-77 years) and a delay in diagnosis of approximately 10 years (range 8-42 years)...
November 15, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27572240/clinically-relevant-variations-of-the-superior-thyroid-cornu
#2
Thomas Shiozawa, P Epe, S Herlan, M Müller, A Tropitzsch, I Tsiflikas, B Hirt
PURPOSE: The superior thyroid cornu (STC) of the thyroid cartilage is a variable structure that maybe associated with different clinical symptoms. This study evaluates the three-dimensional anatomy of the STC. METHODS: Measurements were conducted on 97 CT scans (45 male and 52 female). The protocol models a vector from the base to the tip of the STC and references the cornu to the midline. From these data, the length (C), the rotation angle (γ), the inclination angle (β), and the deviation of STC base (X 2) and tip (X 3) from the midline were measured...
August 29, 2016: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/27413484/nineth-rib-syndrome-after-10-th-rib-resection
#3
Hyun Jeong Yu, Yu Sub Jeong, Dong Hoon Lee, Kyoung Hoon Yim
The 12(th) rib syndrome is a disease that causes pain between the upper abdomen and the lower chest. It is assumed that the impinging on the nerves between the ribs causes pain in the lower chest, upper abdomen, and flank. A 74-year-old female patient visited a pain clinic complaining of pain in her back, and left chest wall at a 7 on the 0-10 Numeric Rating scale (NRS). She had a lateral fixation at T12-L2, 6 years earlier. After the operation, she had multiple osteoporotic compression fractures. When the spine was bent, the patient complained about a sharp pain in the left mid-axillary line and radiating pain toward the abdomen...
July 2016: Korean Journal of Pain
https://www.readbyqxmd.com/read/26958425/camptocormia-and-deep-brain-stimulation-the-interesting-overlapping-etiologies-and-the-therapeutic-role-of-subthalamic-nucleus-deep-brain-stimulation-in-parkinson-disease-with-camptocormia
#4
Hakan Ekmekci, Hulagu Kaptan
BACKGROUND: Camptocormia is known as "bent spine syndrome" and defined as a forward hyperflexion. The most common etiologic factor is related with the movement disorders, mainly in Parkinson's disease (PD). CASE DESCRIPTION: We present the case of a 51-year-old woman who has been followed with PD for the last 10 years, and also under the therapy for PD. An unappreciated correlation low back pain with camptocormia developed. She underwent deep brain stimulation (DBS) in the subthalamic nucleus bilaterally and improved her bending posture...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/26321306/deep-brain-stimulation-as-a-treatment-for-parkinson-s-disease-related-camptocormia
#5
REVIEW
Lee Onn Chieng, Karthik Madhavan, Michael Y Wang
In this systematic review, we aimed to profile the various reported interventions for camptocormia in Parkinson's disease (PD) and give an overview of the benefits of deep brain stimulation (DBS). Currently, there is no consensus in the literature regarding this. PD manifests in several ways and camptocormia is one of the commonly encountered problems for both spine and functional neurosurgeons. It is a significant forward flexion of the thoracolumbar spine which resolves in the recumbent position. DBS was introduced in 2002 in the USA, and since then its efficacy and applications have tremendously increased...
October 2015: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/26205240/bent-spine-syndrome-as-an-initial-manifestation-of-late-onset-multiple-acyl-coa-dehydrogenase-deficiency-a-case-report-and-literature-review
#6
REVIEW
Yufen Peng, Min Zhu, Junjun Zheng, Yuanzhao Zhu, Xiaobing Li, Caixia Wei, Daojun Hong
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...
July 24, 2015: BMC Neurology
https://www.readbyqxmd.com/read/25416724/adipose-tissue-estradiol-levels-and-bone-health-in-obese-men-with-metabolic-syndrome
#7
RANDOMIZED CONTROLLED TRIAL
Marie Juul Ornstrup, Thomas Nordstrøm Kjær, Torben Harsløf, Hans Stødkilde-Jørgensen, David Michael Hougaard, Arieh Cohen, Steen Bønløkke Pedersen, Bente Lomholt Langdahl
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...
February 2015: European Journal of Endocrinology
https://www.readbyqxmd.com/read/25322274/resveratrol-increases-bone-mineral-density-and-bone-alkaline-phosphatase-in-obese-men-a-randomized-placebo-controlled-trial
#8
RANDOMIZED CONTROLLED TRIAL
Marie Juul Ornstrup, Torben Harsløf, Thomas Nordstrøm Kjær, Bente Lomholt Langdahl, Steen Bønløkke Pedersen
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...
December 2014: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/24878839/whole-body-muscle-mri-to-detect-myopathies-in-non-extrapyramidal-bent-spine-syndrome
#9
Mickaël Ohana, Marie-Christine Durand, Catherine Marty, Jean-Philippe Lazareth, Thierry Maisonobe, Dominique Mompoint, Robert-Yves Carlier
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...
August 2014: Skeletal Radiology
https://www.readbyqxmd.com/read/24263032/bent-spine-syndrome-as-an-early-manifestation-of-myotonic-dystrophy-type-1
#10
Victoria H Lawson, Wendy M King, W David Arnold
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...
December 2013: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/23903496/-causes-of-camptocormia
#11
F X Glocker, U G Berninger
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...
August 2013: Der Nervenarzt
https://www.readbyqxmd.com/read/23817804/-complication-analysis-of-spinal-interventions-in-adult-central-movement-disorders-and-scoliosis
#12
J Siewe, K Zarghooni, M Röllinghoff, C Herren, T Koy, P Eysel, R Sobottke
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...
October 2013: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/23638719/systemic-transthyretin-amyloidosis-in-a-patient-with-bent-spine-syndrome
#13
Kourosh Rezania, Peter Pytel, Laurel J Smit, James Mastrianni, Michelle A Dina, W Edward Highsmith, Ahmet Dogan
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.
June 2013: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/23329375/a-novel-late-onset-axial-myopathy-associated-with-mutations-in-the-skeletal-muscle-ryanodine-receptor-ryr1-gene
#14
Sissel Løseth, Nicol C Voermans, Torberg Torbergsen, Sue Lillis, Christoffer Jonsrud, Sigurd Lindal, Erik-Jan Kamsteeg, Martin Lammens, Marcus Broman, Gabriele Dekomien, Paul Maddison, Francesco Muntoni, Caroline Sewry, Aleksandar Radunovic, Marianne de Visser, Volker Straub, Baziel van Engelen, Heinz Jungbluth
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...
June 2013: Journal of Neurology
https://www.readbyqxmd.com/read/23247861/failure-modes-in-conservative-and-surgical-management-of-infectious-spondylodiscitis
#15
Kestutis Valancius, Ebbe Stender Hansen, Kristian Høy, Peter Helmig, Bent Niedermann, Cody Bünger
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...
August 2013: European Spine Journal
https://www.readbyqxmd.com/read/23169483/camptocormia-as-a-late-presentation-in-a-manifesting-carrier-of-duchenne-muscular-dystrophy
#16
Andrew R Findlay, Sarah Lewis, Zarife Sahenk, Kevin M Flanigan
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)...
January 2013: Muscle & Nerve
https://www.readbyqxmd.com/read/21791892/normal-tempo-of-bone-formation-in-turner-syndrome-despite-signs-of-accelerated-bone-resorption
#17
Line Cleemann, Kirsten Holm, Hanne Kobbernagel, Sven O Skouby, Bent Kristensen, Heidi Smedegaard, Anna-Maria Andersson, Arieh Cohen, Claus H Gravholt
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)...
2011: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/21592544/fatty-involution-of-the-gluteus-medius-muscles-a-late-onset-girdle-myopathy
#18
Slim Lassoued, Michel Laroche
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...
December 2011: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/21496627/dysferlinopathies
#19
REVIEW
Anthony A Amato, Robert H Brown
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...
2011: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/21182366/causes-of-camptocormia
#20
REVIEW
Josef Finsterer, Walter Strobl
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...
2011: Disability and Rehabilitation
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