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https://www.readbyqxmd.com/read/28927828/fatty-acid-oxidation-defects-presenting-as-primary-myopathy-and-prominent-dropped-head-syndrome
#1
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Rita Christopher, Narayanappa Gayathri, Archana Natarajan, Mahadevappa Manjunath, Saraswati Nashi, Chandrajit Prasad, Atchayaram Nalini
Fatty acid oxidation disorders presenting as primary myopathy is relatively rare and also diagnostically challenging. Its association with "dropped head syndrome" is reported till date in single cases of carnitine deficiency and multiple acyl CoA dehydrogenase deficiency (MADD).We studied nineteen cases of primary progressive myopathy confirmed to have fatty acid oxidation defects by Tandem Mass Spectrometry. The detailed clinical, muscle histopathology, tandem mass spectrometry and muscle magnetic resonance imaging (MRI) findings are presented here...
August 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28816836/reversal-of-dropped-head-syndrome-after-the-cessation-of-dopaminergic-agonist-treatment-in-parkinson-disease
#2
Tomoo Mano
Dropped head (DH) syndrome is a phenomenon of disproportionate neck anteflexion that has been reported in patients with Parkinson disease (PD). Antiparkinsonian medications such as dopaminergic agonists (DAs) have been implicated in the onset of DH episodes. Deep brain stimulation (DBS) is an important therapeutic option after the failure of conventional treatments such as DA therapy in patients with PD. Here, we report the case of a patient with rigid-akinetic parkinsonism who developed DH syndrome after the initiation of DA treatment...
September 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28762856/exploring-the-diagnosis-delay-and-als-functional-impairment-at-diagnosis-as-relevant-criteria-for-clinical-trial-enrolment
#3
Bello Hamidou, Benoit Marin, Geraldine Lautrette, Marie Nicol, William Camu, Philippe Corcia, Marie-Christine Arnes-Bes, Christine Tranchant, Pierre Clavelou, Didier Hannequin, Giroud Maurice, Katell Beauvais, Jean-Christophe Antoine, Véronique Danel-Brunaud, Fausto Viader, Pierre-Marie Preux, Philippe Couratier
Objectives were: i) to describe the phenotypic heterogeneity of incident amyotrophic lateral sclerosis (ALS) patients diagnosed in 2012 in French ALS centres; ii) to look at the associations between ALSFRS-R score and ALSFRS-R slope (ΔFS) at time of diagnosis with diagnosis delay, ALS phenotypes and Airlie House diagnosis criteria (AHDC); iii) to describe the rate of progression on ΔFS, according to diagnosis delay. METHODS: Incident ALS cases diagnosed in French ALS centres were included...
August 1, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28692456/focal-necrotizing-myopathy-with-dropped-head-syndrome-induced-by-cobimetinib-in-metastatic-melanoma
#4
Marie-Léa Gauci, Pauline Laly, Leonard-Louis Sarah, Anthony Behin, Jérémy Gottlieb, Isabelle Madelaine-Chambrin, Barouyr Baroudjian, Laetitia Da-Meda, Samia Mourah, Maxime Battistella, Nicole Basset Seguin, Martine Bagot, Cécile Pages, Laetitia Vercellino, Thierry Maisonobe, Céleste Lebbé
Therapeutic advances derived from targeted therapy and immune checkpoint inhibitors can improve melanoma prognosis. Since 2015, cobimetinib has been approved in combination with vemurafenib in the first-line treatment for BRAF-mutated melanoma. For NRAS-mutated melanomas, MEK inhibition seems to be a therapeutic target, and association with checkpoint inhibitor provides a further therapeutic perspective. Infraclinical creatine phosphokinase (CPK) elevation is an MEK inhibitor side effect. We describe a case of focal necrotizing myopathy with 'dropped-head syndrome' induced by cobimetinib, 1 month after its introduction...
July 7, 2017: Melanoma Research
https://www.readbyqxmd.com/read/28682883/nivolumab-induced-myasthenia-gravis-in-a-patient-with-squamous-cell-lung-carcinoma-case-report
#5
Yu-Hsiu Chen, Feng-Cheng Liu, Chang-Hung Hsu, Chih-Feng Chian
RATIONALE: Nivolumab (Nivo) is an immune checkpoint inhibitor that has been used to treat advanced melanoma, nonsmall cell lung carcinoma, and renal cell carcinoma since 2015. Nivo is associated with several side effects, including hepatitis, pneumonitis, acute renal failure, endocrine disorder, and other immune-related adverse events. Here, we describe the case of a 65-year-old man with squamous cell lung carcinoma who developed myasthenia gravis (MG) after a third Nivo infusion. PATIENT CONCERNS: A 65-year-old man with advanced squamous cell lung carcinoma developed ptosis, diplopia, drop head, and general weakness 5 days after a third Nivo infusion...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28653096/correction-of-dropped-head-deformity-through-combined-anterior-and-posterior-osteotomies-to-restore-horizontal-gaze-and-improve-sagittal-alignment
#6
Wesley H Bronson, Michael J Moses, Themistocles S Protopsaltis
OBJECTIVE: The aim of this study is to present our technique for a large focal correction of a partially flexible dropped head deformity through combined anterior and posterior osteotomies, as well as anterior soft tissue releases. METHODS: One patient with dropped head deformity underwent an anterior and posterior osteotomy with anterior soft tissue release. RESULTS: The patient recovered well, with postoperative radiographs demonstrating significant improvement in coronal and sagittal alignment...
June 26, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28615915/an-eminently-treatable-dropped-head-syndrome
#7
Jacob George, L Vinitha, V Beena
No abstract text is available yet for this article.
April 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28601994/radiologic-features-of-dropped-head-syndrome-in-the-overall-sagittal-alignment-of-the-spine
#8
Kazuki Hashimoto, Hiroshi Miyamoto, Terumasa Ikeda, Masao Akagi
PURPOSE: Dropped head syndrome (DHS) is a rare clinical entity which is defined as a chin-on-chest deformity in the standing or sitting position, resulting from sagittal imbalance of the cervical region. The purpose of the present study was to clarify the radiologic features of DHS in the overall sagittal alignment of the spine. We also investigated the changes in sagittal alignment after correction surgery for DHS. METHODS: Twenty DHS patients [1 male and 19 female, with an average age of 78...
June 10, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28587920/-what-would-you-do-with-an-adult-patient-who-consults-due-to-head-muscle-weakness-and-has-dropped-head
#9
L Paino, N Blasco
The dropped head syndrome, whether due to muscle weakness, rigidity, or ankylosis, is not uncommon in the elderly. It is characterised by a "chin-on-chest" reducible kyphosis, which is secondary to head muscle debility. It may be associated with a neuromuscular group of diseases such as polymyositis, chronic Inflammatory demyelinating polyneuropathy, myasthenia gravis, amyotrophic lateral sclerosis, and inclusion-body myositis. Some cases associated with hypothyroidism and hyperparathyroidism have also been described...
June 3, 2017: Semergen
https://www.readbyqxmd.com/read/28538252/concurrent-paraspinous-myopathy-and-myasthenia-gravis
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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