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https://www.readbyqxmd.com/read/27876398/dropped-head-congenital-muscular-dystrophy-caused-by-de-novo-mutations-in-lmna
#1
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...
November 19, 2016: 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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/26936164/severe-pain-as-a-possible-cause-of-dropped-head-syndrome-that-was-attenuated-after-amputation-of-an-ischemic-lower-limb
#14
Satoshi Maki, Masao Koda, Takeo Furuya, Kazuhisa Takahashi, Masashi Yamazaki
BACKGROUND: Dropped head syndrome (DHS) is defined as weakness of the neck extensor muscles causing a correctable chin-on-the-chest deformity. Here we report the case of a patient with severe pain from lower leg ischemia showing DHS whose symptoms were attenuated by pain relief after amputation of the severely ischemic lower leg. To our knowledge this is the first report indicating that severe pain can cause DHS. CASE PRESENTATION: A 64-year-old Asian woman was referred to our department with a 1-month history of DHS...
2016: BMC Research Notes
https://www.readbyqxmd.com/read/26875972/dropped-head-syndrome-following-mantle-radiation-therapy
#15
Nobuaki Ochi, Hiromichi Yamane, Yoshihiro Honda, Nagio Takigawa
No abstract text is available yet for this article.
2016: Internal Medicine
https://www.readbyqxmd.com/read/26861169/steroid-responsive-encephalopathy-dropped-head-syndrome-and-hypertension-in-a-toddler-is-there-a-clue
#16
Arushi Gahlot Saini, Jitendra Kumar Sahu, Saptharishi Lalgudi Ganeshan, Kushaljit Singh Sodhi, Katragadda Laxmi Narayan Rao, Pratibha Singhi
BACKGROUND: Paraneoplastic manifestations may provide an early clue to underlying malignancies in children. METHODS: We describe a 3-year-old girl with an unusual neurological paraneoplastic syndrome of steroid-responsive encephalopathy and dropped head syndrome associated with paraspinal neuroblastoma. RESULTS: Cranial neuroimaging, metabolic screen, and thyroid functions were normal. Abdominal imaging identified a paraspinal neuroblastoma...
April 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/26782017/de-novo-exonic-mutation-in-myh7-gene-leading-to-exon-skipping-in-a-patient-with-early-onset-muscular-weakness-and-fiber-type-disproportion
#17
Sander Pajusalu, Inga Talvik, Klari Noormets, Tiina Talvik, Haide Põder, Kairit Joost, Sanna Puusepp, Andres Piirsoo, Werner Stenzel, Hans H Goebel, Tiit Nikopensius, Tarmo Annilo, Margit Nõukas, Andres Metspalu, Katrin Õunap, Tiia Reimand
Here we report on a case of MYH7-related myopathy in a boy with early onset of muscular weakness and delayed motor development in infancy. His most affected muscles were neck extensors showing a dropped head sign, proximal muscles of lower limbs with positive Gower's sign, and trunk muscles. Brain and spinal cord MRI scans, echocardiography, and laboratory analyses including creatine kinase and lactate did not reveal any abnormalities. Muscle histopathology showed fiber-type disproportion. Whole exome sequencing of the parents-offspring trio revealed a novel de novo c...
March 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/26684338/early-onset-dropped-head-syndrome-after-radiotherapy-for-head-and-neck-cancer-dose-constraints-for-neck-extensor-muscles
#18
Koji Inaba, Satoshi Nakamura, Hiroyuki Okamoto, Tairo Kashihara, Kazuma Kobayashi, Ken Harada, Mayuka Kitaguchi, Shuhei Sekii, Kana Takahashi, Naoya Murakami, Yoshinori Ito, Hiroshi Igaki, Takashi Uno, Jun Itami
Dropped head syndrome (DHS) is a famous but unusual late complication of multimodality treatment for head and neck carcinoma. We reported this early-onset complication and analyzed the dose to the neck extensor muscles. We examined the records of three patients with DHS after radiotherapy. The doses to the neck extensor muscles were compared between three patients with DHS and nine patients without DHS. The mean dose to the neck extensor muscles of the three patients with DHS were 58.5 Gy, 42.3 Gy and 60.9 Gy, while the dose was <50 Gy in all nine patients in the control group...
March 2016: Journal of Radiation Research
https://www.readbyqxmd.com/read/26618766/-sporadic-late-onset-nemaline-myopathy-associated-with-mgus
#19
REVIEW
Taiji Nagai, Yoshihide Sunada
Sporadic late-onset nemaline myopathy is an uncommon disease. Clinically, it is characterized by progressive muscle weakness that can develop in limbs or axial muscles. Asymmetrical distal weakness, facial weakness, dropped head, and dysphagia can also occur. Since the serum creatine kinase level usually remains within the normal range, patients can be misdiagnosed with motor neuron disease. Recognition of nemaline rods on muscle biopsy is crucial for accurate diagnosis. If it is associated with monoclonal gammopathy of undetermined significance, the outcome is known to be unfavorable...
December 2015: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/26494409/dropped-head-in-recessive-oculopharyngeal-muscular-dystrophy
#20
Matteo Garibaldi, Elena Maria Pennisi, Mirella Bruttini, Veronica Bizzarri, Elisabetta Bucci, Stefania Morino, Caterina Talerico, Antonella Stoppacciaro, Alessandra Renieri, Giovanni Antonini
A 69-year-old woman presented a dropped head, caused by severe neck extensor weakness that had started two years before. She had also developed a mild degree of dysphagia, rhinolalia, eyelid ptosis and proximal limb weakness during the last months. EMG revealed myopathic changes. Muscle MRI detected fatty infiltration in the posterior neck muscles and tongue. Muscle biopsy revealed fiber size variations, sporadic rimmed vacuoles, small scattered angulated fibers and a patchy myofibrillar network. Genetic analysis revealed homozygous (GCN)11 expansions in the PABPN1 gene that were consistent with recessive oculopharyngeal muscular dystrophy (OPMD)...
November 2015: Neuromuscular Disorders: NMD
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