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https://www.readbyqxmd.com/read/28538252/concurrent-paraspinous-myopathy-and-myasthenia-gravis
#1
Alissa E Romano, Zaid Al-Qudah, Henry J Kaminski, Bashar Katirji, Karim Salame
Paraspinous myopathy is a rare neuromuscular disorder characterized by selective involvement of the cervical, thoracic, or lumbar muscles. Leading clinical features include a bent spine or dropped head (antecollis). In myasthenia gravis (MG), patients may have camptocormia secondary to neuromuscular junction dysfunction of the paraspinal muscles, and this condition usually responds to acetylcholinesterase inhibitors or immunosuppressive treatments. However, concomitant MG and paraspinous myopathy with histologic and electrophysiologic evidence of myopathic changes of the paraspinal muscles has only been reported twice in the literature...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28506261/a-possible-role-of-low-regulatory-t-cells-in-anti-acetylcholine-receptor-antibody-positive-myasthenia-gravis-after-bone-marrow-transplantation
#2
Masahiko Fukatsu, Takenobu Murakami, Hiroshi Ohkawara, Shunichi Saito, Kazuhiko Ikeda, Suguru Kadowaki, Itaru Sasaki, Mari Segawa, Tomoko Soeda, Akihiko Hoshi, Hiroshi Takahashi, Akiko Shichishima-Nakamura, Kazuei Ogawa, Yoshihiro Sugiura, Hitoshi Ohto, Yasuchika Takeishi, Takayuki Ikezoe, Yoshikazu Ugawa
BACKGROUND: Chronic graft-versus-host disease (GVHD) appears several months following allogenic hematopoietic stem cell transplantation (HSCT) and is clinically analogous to autoimmune disorder. Polymyositis is a common neuromuscular disorder in chronic GVHD, but myasthenia gravis (MG) is extremely rare. Hence, its pathophysiology and treatment have not been elucidated. CASE PRESENTATION: A 63-year-old man with a history of chronic GVHD presented with ptosis, dropped head, and dyspnea on exertion, which had worsened over the previous several months...
May 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28473922/dropped-head-and-man-in-barrel-syndrome-in-amyotrophic-lateral-sclerosis
#3
Rui Almeida, Ana Catarina Felix, Ana Luísa André, Hipólito Nzwalo
We report a case of progressive symmetric brachial weakness followed by cervical muscle weakness. The electromyogram confirmed the diagnosis of amyotrophic lateral sclerosis. After 3 years the patient remained able to walk unassisted and without significant bulbar manifestations or upper neuron signs. The concomitant presence of dropped head syndrome and man-in-barrel syndrome in an amyotrophic lateral sclerosis patient makes our case unique.
April 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28251189/the-influence-of-sarcopenia-in-dropped-head-syndrome-in-older-women
#4
Yawara Eguchi, Toru Toyoguchi, Masao Koda, Munetaka Suzuki, Hajime Yamanaka, Hiroshi Tamai, Tatsuya Kobayashi, Sumihisa Orita, Kazuyo Yamauchi, Miyako Suzuki, Kazuhide Inage, Kazuki Fujimoto, Hirohito Kanamoto, Koki Abe, Yasuchika Aoki, Kazuhisa Takahashi, Seiji Ohtori
BACKGROUND: Age-related sarcopenia may cause physical dysfunction. We investigated the involvement of sarcopenia in dropped head syndrome (DHS). METHODS: Our study subjects were ten elderly women with idiopathic DHS (mean age 75.1 years, range 55-89). Twenty age- and sex-matched volunteers (mean age 73.0, range 58-83) served as controls. We used a bioelectrical impedance analyzer (BIA) to analyze body composition, including appendicular skeletal muscle mass index (SMI; appendicular lean mass (kg)/(height (m))(2))...
2017: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/28221305/a-novel-missense-variant-in-the-agrn-gene-congenital-myasthenic-syndrome-presenting-with-head-drop
#5
Mert Karakaya, Ozge Ceyhan-Birsoy, Alan H Beggs, Haluk Topaloglu
Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases of the neuromuscular junction caused by compromised synaptic transmission. Clinical features include early-onset weakness of limbs and oculobulbar muscles resulting in hypotonia, bulbar paresis, ptosis, and hypoventilation. The first dropped head syndrome in children were detected in 2 patients with LMNA and SEPN1 mutations. We report a 17-month-old boy with dropped head and limb-girdle weakness, who had no ptosis or ophthalmoplegia at presentation...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28120788/a-practical-approach-to-the-patient-presenting-with-dropped-head
#6
Marija Cauchi, Eleanor Marsh
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck extensors and those with increased tone of neck flexors. The most common neuromuscular causes include myasthenia gravis, motor neurone disease and myositis, while neck dystonia secondary to movement disorders can cause an increased tone. Investigations should include blood tests, imaging, muscle biopsy and neurophysiological studies...
December 2016: Practical Neurology
https://www.readbyqxmd.com/read/28078065/clinical-features-of-neuromuscular-disorders-in-patients-with-n-type-voltage-gated-calcium-channel-antibodies
#7
Andreas Totzeck, Petra Mummel, Oliver Kastrup, Tim Hagenacker
Neuromuscular junction disorders affect the pre- or postsynaptic nerve to muscle transmission due to autoimmune antibodies. Members of the group like myasthenia gravis and Lambert-Eaton syndrome have pathophysiologically distinct characteristics. However, in practice, distinction may be difficult. We present a series of three patients with a myasthenic syndrome, dropped-head syndrome, bulbar and respiratory muscle weakness and positive testing for anti-N-type voltage-gated calcium channel antibodies. In two cases anti-acetylcholin receptor antibodies were elevated, anti-P/Q-type voltage-gated calcium channel antibodies were negative...
September 15, 2016: European Journal of Translational Myology
https://www.readbyqxmd.com/read/27876398/dropped-head-congenital-muscular-dystrophy-caused-by-de-novo-mutations-in-lmna
#8
Pakize Karaoglu, Nicolas Quizon, Matthias Pergande, Haicui Wang, Ayşe Ipek Polat, Ayca Ersen, Erdener Özer, Lena Willkomm, Semra Hiz Kurul, Raúl Heredia, Uluç Yis, Duygu Selcen, Sebahattin Çirak
BACKGROUND: Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. CASE DESCRIPTION: Two patients exhibited head drop during infancy although they were able to sit independently. Later they developed progressive axial and limb-girdle weakness. Creatine kinase levels were elevated and muscle biopsies of both patients showed severe dystrophic changes...
April 2017: Brain & Development
https://www.readbyqxmd.com/read/27863479/myasthenic-symptoms-in-anti-low-density-lipoprotein-receptor-related-protein-4-antibody-seropositive-amyotrophic-lateral-sclerosis-two-case-reports
#9
Hisashi Takahashi, Yu-Ichi Noto, Naoki Makita, Yukie Kushimura-Okada, Ryotaro Ishii, Akihiro Tanaka, Tomoyuki Ohara, Shunya Nakane, Osamu Higuchi, Masanori Nakagawa, Toshiki Mizuno
BACKGROUND: Myasthenic symptoms can be present in patients with amyotrophic lateral sclerosis (ALS). These symptoms have been considered to be caused by the degeneration of distal motor neurons and the neuromuscular junction (NMJ). Recent studies suggested that antibody to low-density lipoprotein receptor-related protein 4 (LRP4) was a pathogenic agent of myasthenia gravis (MG), and it was also detected in ALS patients. CASE PRESENTATION: Patient 1: A 58-year-old Japanese man developed progressive weakness and subsequent myasthenic symptoms including oculomotor disturbance...
November 18, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27854225/myasthenia-gravis-unusual-presentations-and-diagnostic-pitfalls
#10
Carmelo Rodolico, Daniela Parisi, Simona Portaro, Fiammetta Biasini, Stefano Sinicropi, Annamaria Ciranni, Antonio Toscano, Sonia Messina, Olimpia Musumeci, Giuseppe Vita, Paolo Girlanda
BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. OBJECTIVE: To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. METHODS: We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27853084/double-seronegative-myasthenia-gravis-with-anti-lrp4-antibodies-presenting-with-dropped-head-and-acute-respiratory-insufficiency
#11
Goichi Beck, Taiki Yabumoto, Kousuke Baba, Tsutomu Sasaki, Osamu Higuchi, Hidenori Matsuo, Hideki Mochizuki
We herein report the case of a 72-year-old man demonstrating myasthenia gravis (MG) with a dropped head and acute respiratory insufficiency. There was no ocular, bulbar, or limb involvement. The patient was seronegative for anti-acetylcholine receptor (AChR) antibodies and anti-muscle-specific tyrosine kinase (MuSK) antibodies. Subsequent tests showed seropositivity for anti-low-density lipoprotein receptor-related protein 4 (LRP4) antibodies. The addition of steroid pulse therapy resulted in a full remission of his respiratory symptoms...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27651676/studies-on-clinical-signs-and-biochemical-alteration-in-pregnancy-toxemic-goats
#12
Prasannkumar R Vasava, R G Jani, H V Goswami, S D Rathwa, F B Tandel
AIM: This study was planned to reveal the clinical signs and biochemical alterations in pregnancy toxemic goats. MATERIALS AND METHODS: Blood samples were collected from 20 healthy pregnant and 45 pregnancy toxemic goats and analyzed biochemically. RESULTS: The most significant clinical findings were observed in naturally affected goats with pregnancy toxemia included anorexia, recumbency, lethargy, opisthotonos, dropped head, periodic convulsion, sweetish fruity odor from breath, apparent blindness, bloat, grinding of teeth, and frothy salivation...
August 2016: Veterinary World
https://www.readbyqxmd.com/read/27580764/two-cases-of-sporadic-late-onset-nemaline-myopathy-effectively-treated-with-immunotherapy
#13
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/27391986/-radiation-induced-radiculopathy-with-paresis-of-the-neck-and-autochthonous-back-muscles-with-additional-myopathy
#14
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/27387980/myh7-related-myopathies-clinical-histopathological-and-imaging-findings-in-a-cohort-of-italian-patients
#15
C Fiorillo, G Astrea, M Savarese, D Cassandrini, G Brisca, F Trucco, M Pedemonte, R Trovato, L Ruggiero, L Vercelli, A D'Amico, G Tasca, M Pane, M Fanin, L Bello, P Broda, O Musumeci, C Rodolico, S Messina, G L Vita, M Sframeli, S Gibertini, L Morandi, M Mora, L Maggi, A Petrucci, R Massa, M Grandis, A Toscano, E Pegoraro, E Mercuri, E Bertini, T Mongini, L Santoro, V Nigro, C Minetti, F M Santorelli, C Bruno
BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27335311/dropped-head-syndrome-after-cervical-laminoplasty-a-case-control-study
#16
Masao Koda, Takeo Furuya, Tomoaki Kinoshita, Tomohiro Miyashita, Mitsutoshi Ota, Satoshi Maki, Yasushi Ijima, Junya Saito, Kazuhisa Takahashi, Masashi Yamazaki, Masaaki Aramomi, Chikato Mannoji
Dropped head syndrome (DHS) is characterized by apparent neck extensor muscle weakness and difficulty extending the neck to raise the head against gravity. The aim of the present study was to elucidate possible risk factors for DHS after cervical laminoplasty. Five patients who developed DHS after cervical laminoplasty (DHS group) and twenty age-matched patients who underwent laminoplasty without DHS after surgery (control group) were compared. The surgical procedure was single-door laminoplasty with strut grafting using resected spinous processes or hydroxyapatite spacers from C3 to C6 or C7...
October 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27235582/flexible-dropped-head-deformity-following-laminectomy-for-cervical-spondylotic-myelopathy-a-case-series-and-review-of-literature
#17
Hisse Arnts, Ronald H M A Bartels
BACKGROUND CONTEXT: Flexible dropped head deformity (FDHD) following laminectomy for cervical spondylotic myelopathy is a debilitating entity. Patients need to support their head manually to look forward in standing or sitting position. FDHD is different from rigid dropped head deformity in patients with post-laminectomy kyphosis or ankylosing spondylitis and has only once been described after surgery to the cervical spine. PURPOSE: To report a rare, but severe complication of cervical posterior decompressive surgery, to describe its possible etiology, and to review the literature on the management of FDHD in order to provide recommendations for its treatment...
May 25, 2016: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/27034870/cervical-spondylotic-myelopathy-secondary-to-dropped-head-syndrome-report-of-a-case-and-review-of-the-literature
#18
Abolfazl Rahimizadeh, Housain F Soufiani, Saghayegh Rahimizadeh
The dropped head syndrome (DHS) is a disabling condition caused by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up. Weakness can occur in isolation or in association with a generalized neuromuscular disorder. Isolated cases are owed to the late onset of noninflammatory myopathy designated as INEM, where persistent chin to chest deformity may gradually cause or aggravate preexisting degenerative changes of the cervical spine and ultimately result in myelopathy...
2016: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/27020457/dropped-head-syndrome-after-minor-trauma-in-a-patient-with-levosulpiride-aggravated-vascular-parkinsonism
#19
Soo Hyun Cho, Dokyung Lee, Tae-Beom Ahn
No abstract text is available yet for this article.
May 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/26997007/postural-striatal-deformities-in-parkinson-s-disease-are-these-rare
#20
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
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