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https://www.readbyqxmd.com/read/28396884/camptocormia-and-shuffling-gait-due-to-a-novel-mt-tv-mutation-diagnostic-pitfalls
#1
Jens Reimann, Diana Lehmann, Steven A Hardy, Gavin Falkous, Charlotte V Y Knowles, Rachel L Jones, Wolfram S Kunz, Robert W Taylor, Cornelia Kornblum
No abstract text is available yet for this article.
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28361820/assessment-of-striatal-postural-deformities-in-patients-with-parkinson-s-disease
#2
Sanjay Pandey, Hitesh Kumar
BACKGROUND & OBJECTIVES: Though striatal and postural deformities are known to occur commonly in atypical Parkinsonism patients, these may also be seen in patients with Parkinson's disease (PD). These are frequently misdiagnosed as joint or orthopaedic pathology leading to unnecessary investigations. This study was conducted to observe the various striatal and postural deformities among patients with PD in India. METHODS: This study was conducted at a tertiary care teaching institute in north# India...
November 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28334855/slc30a9-mutation-affecting-intracellular-zinc-homeostasis-causes-a-novel-cerebro-renal-syndrome
#3
Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halperin, Shiran Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A Rutter, Daniel Landau, Ohad S Birk
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified an ∼18 Mb disease-associated locus on chromosome 4 (maximal logarithm of odds score 4...
April 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28157107/the-cross-sectional-area-of-paraspinal-muscles-predicts-the-efficacy-of-deep-drain-stimulation-for-camptocormia
#4
Waka Sakai, Shunya Nakane, Eiichirou Urasaki, Keisuke Toyoda, Eisaku Sadakata, Akiko Nagaishi, Takayasu Fukudome, Yuzo Yamakawa, Hidenori Matsuo
BACKGROUND: Camptocormia, a disturbance of posture, is a well-described clinical feature of PD and other parkinsonian syndromes. Previous reports have shown that DBS of the subthalamic nucleus (STN) or globus pallidus internus is effective in treating camptocormia. However, the efficacy of DBS for camptocormia varies. OBJECTIVE: To determine a clinical marker for selecting an appropriate therapy for camptocormia, a disabling manifestation of Parkinson's disease (PD) that has a variable response to systemic and local therapies...
January 30, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28122426/camptocormia-with-transient-ischemic-attack
#5
Ju-Hee Oh, Dong-Woo Ryu, Si-Hoon Lee, Joong-Seok Kim
No abstract text is available yet for this article.
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28120463/novel-variant-in-the-pygm-gene-causing-late-onset-limb-girdle-myopathy-ptosis-and-camptocormia
#6
Chrystel Chéraud, Roseline Froissart, Béatrice Lannes, Andoni Echaniz-Laguna
INTRODUCTION: McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain. METHODS: We report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene. RESULTS: Two patients, aged 76 and 79 years, presented with severe upper and lower limb atrophy and weakness. Additionally, 1 patient presented with bilateral ptosis, and the other with camptocormia...
January 24, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/27847583/multiple-spinal-revision-surgery-in-a-patient-with-parkinson-s-disease
#7
Hridayesh Pratap Malla, Min Ki Kim, Tae Sung Kim, Dae Jean Jo
Parkinson's disease (PD) patients frequently have several spinal deformities leading to postural instabilities including camptocormia, myopathy-induced postural deformity, Pisa syndrome, and progressive degeneration, all of which adversely affect daily life activities. To improve these postural deformities and relieve the related neurologic symptoms, patients often undergo spinal instrumentation surgery. Due to progressive degenerative changes related to PD itself and other complicating factors, patients and surgeons are faced with instrument failure-related complications, which can ultimately result in multiple revision surgeries yielding various postoperative complications and morbidities...
November 2016: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/27785468/bracing-in-adult-with-scoliosis-experience-in-diagnosis-and-classification-from-a-15%C3%A2-year-prospective-study-of-739-patients
#8
Jean Claude de Mauroy, Cyril Lecante, Frédéric Barral, Sophie Pourret
BACKGROUND: Despite the frequency of adult scoliosis, very few publications concern the conservative orthopaedic treatments. The indications have not been defined to date. The experience of a department specialized in rigid bracing allows us to consolidate and clarify diagnosis and indications as well. METHODS: Individual observational prospective cohort study from a database started in 1998, with selection of all 739 adult scoliosis patients for which conservative orthopaedic treatment has been proposed to, even in case of drop-out...
2016: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/27676973/sustainable-reduction-in-the-occurrence-of-falls-in-a-parkinson-s-patient-who-followed-an-intensive-and-specific-rehabilitation-program-to-recalibrate-verticality-perception
#9
Laure Mathevon, Nicolas Leroux, Céline Piscicelli, Emmanuelle Clarac, Shenhao Dai, Patrice Davoine, Paul Krack, Dominic Perennou
OBJECTIVE: To take care of postural disorders is a major issue in Parkinson's disease (PD). We present a documented observation suggesting the existence of a biased representation of verticality in PD, resulting in a severe retropulsion and recurrent falls. A rehabilitation program aimed to modulate verticality perception dramatically improved the postural perception of the vertical, trunk posture and balance abilities, and reduced retropulsion as well as lastingly fall frequency. OBSERVATIONS: A 68 year-old patient with Parkinson's disease fall backward 3 times a day...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27676881/brace-kinematical-analysis-on-patients-with-camptocormia
#10
Ricardo Duarte, Michel Mesnard, Philippe Wentzy, Mathieu De Sèze
OBJECTIVE: Camptocormia is a postural disease characterized by the trunk's antero-flexion during the walking gait. A brace to correct the posture is usually proposed. The evaluation of its effect through static measures has proved to be insufficient. The brace effectiveness was never evaluated on the kinematics point of view. According to that, the purpose of this study was to evaluate cinematically the evolution of the cervical arrow during the walking gait in patients with camptocormia...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27668941/a-camptocormia-case-treated-with-electroconvulsive-therapy
#11
Huseyin Bayazit, Fethiye Kilicaslan, Kadir Guler, I Fatih Karababa, Hasan Kandemir
No abstract text is available yet for this article.
September 23, 2016: Journal of ECT
https://www.readbyqxmd.com/read/27580764/two-cases-of-sporadic-late-onset-nemaline-myopathy-effectively-treated-with-immunotherapy
#12
Yukio Mizuno, Madoka Mori-Yoshimura, Tomoko Okamoto, Yasushi Oya, Ichizo Nishino, Miho Murata
Sporadic late onset nemaline myopathy (SLONM) associated with monoclonal gammopathy of undetermined significance (MGUS) is an adult onset myopathy with poor clinical outcomes, requiring high-dose intravenous melphalan with autologous peripheral blood stem cell transplantation (HDM-SCT). Here we report two cases of SLONM associated with MGUS in which improvements were achieved only with immunotherapy. A 39-year-old woman had a two-year history of dropped head syndrome and progressive proximal weakness. On admission, she was able to walk with assistance and had lordosis with camptocormia...
September 29, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27514242/botulinum-toxin-use-in-refractory-pain-and-other-symptoms-in-parkinsonism
#13
Veronica A Bruno, Susan H Fox, Deborah Mancini, Janis M Miyasaki
BACKGROUND: Parkinson's disease (PD) and other parkinsonian syndromes are chronic, progressive neurodegenerative diseases. With advancing disease, both motor and non-motor symptoms represent a considerable burden and symptom relief and quality of life improvement become the main goal of treatment. Botulinum toxins (BTX) are an effective treatment modality for many neurological conditions. METHODS: To understand the potential usefulness of BTX in this population, we performed a retrospective chart review of all patients with a clinical diagnosis of idiopathic PD and atypical parkinsonism who received treatment with BTX injections in our center from 1995 to 2014 for a variety of symptoms...
September 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27471900/management-of-spinal-deformity-in-adult-patients-with-neuromuscular-disease
#14
Themistocles S Protopsaltis, Anthony J Boniello, Frank J Schwab
A wide range of neuromuscular diseases, including Parkinson disease, cerebral palsy, multiple sclerosis, and myopathy, are associated with spinal deformities. The most common postural deformities include anterocollis, Pisa syndrome (pleurothotonus), scoliosis, and camptocormia. Nonsurgical management of spinal deformity in patients with neuromuscular disease centers on maximizing the medical management of the underlying neurodegenerative pathology before surgical intervention is contemplated. Surgical management can include decompression alone, or decompression and fusion with short or long fusion constructs...
September 2016: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/27445789/camptocormia-in-parkinson-s-disease-a-muscle-disease-due-to-dysregulated-proprioceptive-polysynaptic-reflex-arch
#15
Walter J Schulz-Schaeffer
No abstract text is available yet for this article.
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27391986/-radiation-induced-radiculopathy-with-paresis-of-the-neck-and-autochthonous-back-muscles-with-additional-myopathy
#16
G Ellrichmann, C Lukas, I A Adamietz, C Grunwald, C Schneider-Gold, R Gold
Radiation-induced tissue damage is caused by ionizing radiation mainly affecting the skin, vascular, neuronal or muscle tissue. Early damages occur within weeks and months while late damages may occur months or even decades after radiation.Radiation-induced paresis of the spine or the trunk muscles with camptocormia or dropped-head syndrome are rare but have already been described as long-term sequelae after treatment of Hodgkin's lymphoma. The differential diagnosis includes limb-girdle muscular dystrophy, fascioscapulohumeral muscular dystrophy (FSHD) or lysosomal storage diseases (e...
June 2016: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/27351804/treatment-of-mild-camptocormia-with-selegiline-in-patients-with-parkinson-s-disease
#17
Asako Yoritaka, Hideo Mori, Nobutaka Hattori
BACKGROUND: Camptocormia in Parkinson's disease (PD) is unresponsive to various therapies and induced difficulties in their day-to-day life. OBJECTIVE: This study, an open trial, was aimed at assessing the efficacy of selegiline in the treatment of mild camptocormia in PD patients. METHODS: Participants were administered 5 mg of selegiline for the first 8 weeks and 7.5 mg for the second 8 weeks. RESULTS: As primary endpoints, the degree of thoracolumbar anteflexion decreased from 23...
2016: European Neurology
https://www.readbyqxmd.com/read/27314757/pathophysiological-concepts-and-treatment-of-camptocormia
#18
N G Margraf, A Wrede, G Deuschl, W J Schulz-Schaeffer
Camptocormia is a disabling pathological, non-fixed, forward bending of the trunk. The clinical definition using only the bending angle is insufficient; it should include the subjectively perceived inability to stand upright, occurrence of back pain, typical individual complaints, and need for walking aids and compensatory signs (e.g. back-swept wing sign). Due to the heterogeneous etiologies of camptocormia a broad diagnostic approach is necessary. Camptocormia is most frequently encountered in movement disorders (PD and dystonia) and muscles diseases (myositis and myopathy, mainly facio-scapulo-humeral muscular dystrophy (FSHD))...
June 16, 2016: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/26997007/postural-striatal-deformities-in-parkinson-s-disease-are-these-rare
#19
REVIEW
Sanjay Pandey, Hitesh Garg
Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the patients. Patients with PD may have stooped posture but some of them develop different types of postural and striatal deformities. Usually these deformities are more common in atypical parkinsonian disorders such as progressive supranuclear palsy and multisystem atrophy. But in many studies it has been highlighted that these may also be present in approximately one third of PD patients leading to severe disability...
January 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/26969127/is-deltoid-muscle-biopsy-useful-in-isolated-camptocormia-a-prospective-study
#20
J-B Chanson, B Lannes, A Echaniz-Laguna
BACKGROUND AND PURPOSE: Camptocormia is a marked anterior curvature of the thoracolumbar spine that may be caused by parkinsonism, amyotrophic lateral sclerosis (ALS), myasthenia gravis (MG) and muscle disease. The interest of a systematic muscle biopsy has not been evaluated until now. In our study, the aim was to prospectively evaluate the proportion of patients with isolated camptocormia without ALS, MG and parkinsonism who have an underlying myopathy. METHODS: Twenty consecutive patients (75% female, mean age 70 years) with isolated camptocormia were enrolled in a single centre in this 5-year prospective study...
June 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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