journal
MENU ▼
Read by QxMD icon Read
search

Journal of Clinical Neuromuscular Disease

journal
https://www.readbyqxmd.com/read/27861229/what-s-in-the-literature
#1
Nicholas J Silvestri, Gil I Wolfe, David Lacomis
In this edition, we focus on neuromuscular junction disorders and myopathy. The newly published international consensus guidelines for the management of myasthenia gravis are reviewed. In addition, various emerging treatment options for myasthenia, including the use of methotrexate, rituximab, subcutaneous immunoglobulin, and thymectomy, are discussed. Recent studies examining the clinical and genetic features of several forms of congenital myasthenia gravis are also highlighted. The clinical features and treatment of late-onset Pompe disease are reviewed, as are studies in facioscapulohumeral dystrophy, idiopathic inflammatory myopathies, and calpainopathy...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861228/seronegative-bulbar-myasthenia-gravis-associated-with-voltage-gated-potassium-channel-antibodies
#2
Taofik Nasrat, Wensa Esarraj, Maher Fakhouri, Edwin George
No abstract text is available yet for this article.
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861227/sensory-ganglionopathy-associated-with-sj%C3%A3-gren-syndrome
#3
Bhavesh Trikamji, Nastaran Rafiei, Hadi Mohammadkhanli, Shri K Mishra
No abstract text is available yet for this article.
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861226/selective-triceps-muscle-weakness-in-myasthenia-gravis-is-under-recognized
#4
Carmina A Domingo, Mark E Landau, William W Campbell
No abstract text is available yet for this article.
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861225/bifid-median-nerve-and-persistent-median-artery-with-ultrasound-evaluation
#5
Ozgur Z Karaahmet, Ebru Umay, Eda Gurcay, Aytul Cakc
No abstract text is available yet for this article.
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861224/neuralgic-amyotrophy-associated-with-hepatitis-e-virus-infection-first-case-in-the-united-states
#6
Jose D Avila, David Lacomis, Erek M Lam
Hepatitis E is an emerging viral infection in developed countries. It can present with multiple extra-hepatic manifestations, including neuralgic amyotrophy. We report a 52-year-old man who presented with neck and shoulder pain followed by orthopnea and left arm weakness. Electrodiagnostic testing showed left phrenic neuropathy and denervation in bilateral C5 and C6 myotomes. He also had elevated liver enzymes, which led to the diagnosis of acute hepatitis E. This is the first case of neuralgic amyotrophy associated with hepatitis E in the United States...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861223/gastrointestinal-and-urologic-sphincter-dysfunction-in-stiff-person-syndrome
#7
Oana M Dumitrascu, Evgeny I Tsimerinov, Richard A Lewis
OBJECTIVES: Stiff person syndrome is a neurologic disorder characterized by axial rigidity leading to progressive disability, with broad clinical spectrum. METHODS: We report 2 cases with unique clinical presentation. RESULTS: Two young men suffered progressive urinary retention requiring bladder catheterization, anorectal spasms and constipation, complicated subsequently with lower extremity trigger-induced spasms, and gait instability. Associated symptoms revealed brainstem involvement (vertigo, diplopia, and cranial neuropathies) and dysautonomia (abnormal sweating and orthostatic hypotension)...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861222/novel-homozygous-missense-mutation-in-capn3-gene-detected-in-a-saudi-arabian-family-with-limb-girdle-muscular-dystrophy-type-2a
#8
Talal M Al-Harbi, Sameeh O Abdulmanaʼ, Walid Dridi
More than 300 mutations were identified in Calpainopathy (CAPN3) gene in limb-girdle muscular dystrophy type 2A (LGMD2A) patients. LGMD2A type is also known as Calpainopathy, which is characterized by selective atrophy and weakness of proximal limb muscles. We report a Saudi Arabian family with weakness in limb-girdle distribution: waddling gait, positive Gowers' sign, and marked muscle atrophy in the shoulder and pelvic girdle muscles. We sequenced all exonic and intronic regions of the CAPN3 gene and identified c...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861221/clinical-electrophysiology-and-pathology-features-of-dynamin-centronuclear-myopathy-a-case-report-and-review-of-literature
#9
Sumit Verma, Suman B Balasubramanian
Dynamin (DNM2) centronuclear myopathy (CNM) has variable age of onset, distal greater than proximal muscle weakness, ptosis with or without extraocular muscle weakness, and a characteristic muscle biopsy with radial sarcoplasmic strands giving spoke like appearance. The following case report highlights clinical, electrophysiology, and pathology features of a genetic confirmed DNM2 CNM subject. In addition, a review of literature on all genetic confirmed DNM2 CNM cases published in English literature from 2006 to 2016 is presented...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861220/hereditary-neuropathy-with-liability-to-pressure-palsies-diverse-phenotypes-in-childhood
#10
Yohei Harada, Araya Puwanant, David N Herrmann
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal-dominant disorder that most commonly produces recurrent painless focal sensory and motor neuropathies often preceded by minor, mechanical stress, or minor trauma. Herein, we report 2 pediatric cases of HNPP with atypical presentations; isolated muscle cramping and toe walking. Electrophysiologic testing disclosed multifocal sensorimotor polyneuropathy with slowing of sensory conduction velocities in both cases, which prompted PMP 22 gene deletion testing...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861219/rapidly-resolving-weakness-related-to-hypokalemia-in-patients-infected-with-dengue-virus
#11
Pradeep K Maurya, Dinkar Kulshreshtha, Ajai K Singh, Anup K Thacker
OBJECTIVES: Dengue is a mosquito-borne disease caused by arbovirus and well known for its typical fever with thrombocytopenia syndrome. Acute hypokalemic quadriparesis is a rare presentation of dengue with uncertain pathogenesis. We aim to describe the clinical and biochemical characteristics of rapidly resolving weakness related to hypokalemia in patients infected with dengue virus. METHODS: A retrospective review of the records of patients with diagnosis of dengue-associated hypokalemic weakness was performed...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861218/inclusion-body-myositis-what-most-impacts-patients-lives
#12
Cynthia Gibson, Nicholas E Johnson, Eileen Eastwood, Chad Heatwole
OBJECTIVE: Inclusion body myositis (IBM) is the most common form of idiopathic inflammatory myopathy in adults older than 50 years. Few studies have focused on the functional, physical, and social limitations of this disease. This study identifies pertinent symptoms that impact the health and daily function of patients with IBM. METHODS: We used semistructured interviews with 10 biopsy-confirmed adults with IBM to identify the psychological, physical, and functional limitations that have the greatest impact on the lives of patients with IBM...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861217/low-dose-medication-and-long-term-outcome-in-myasthenia-gravis
#13
Salomi Salins, Barbara Teter, Katelyn Kavak, Gil I Wolfe, Nicholas J Silvestri
OBJECTIVES: Many advances have been made in the diagnosis, treatment, and management of myasthenia gravis (MG) and most patients will eventually progress to experience minimal manifestations (MM) of the disease or remission. However, there is a paucity of literature on medication dosing needed to achieve such a favorable clinical status in the long term. The objective of this article was to (1) study the course of MG and identify clinical predictors of maintenance of eventual disease remission or minimal manifestations and (2) determine if patients on low-dose medications have comparable MG Foundation of America (MGFA) scores and postintervention statuses (PIS) with those on conventional therapeutic dosing...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27552392/what-s-in-the-literature
#14
Nicholas J Silvestri, Gil I Wolfe, David Lacomis, Mark B Bromberg
The Guillain-Barré syndrome (GBS) is one of the few neuropathies well known to the general public, in part because of its association with swine flu vaccinations in 1976. GBS has again reached the general public with its possible association with Zika virus. The virus, borne by infected Aedes aegypti mosquitos, is being linked to birth defects when pregnant women are bitten and infected. There are early reports also linking GBS to Zika infection, which could expose a wider range of infected people to the neuropathy...
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27552391/sensory-neuronopathy-in-spinal-muscular-atrophy-a-case-presentation
#15
Derrece Reid, Yuliya Zinger, Divisha Raheja
No abstract text is available yet for this article.
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27552390/meralgia-paresthetica-in-subcutaneous-interferon-alpha-treatment
#16
Samuel Arends, Paul Willem Wirtz
No abstract text is available yet for this article.
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27552389/mri-ventral-nerve-root-enhancement-in-five-patients-presenting-with-extremity-weakness-secondary-to-neuroinvasive-west-nile-virus
#17
Chirag B Patel, Bhavesh Trikamji, Glenn Mathisen, Catherine Yim, Brian Zipser, Shrikant Mishra
No abstract text is available yet for this article.
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27552388/small-fiber-neuropathy-following-vaccination
#18
Jafar Kafaie, Minsoo Kim, Erik Krause
OBJECTIVE: To identify clinical and quantitative relationship between vaccinations and small fiber neuropathy (SFN). SFN refers to damaged unmyelinated or thinly myelinated sensory and/or autonomic fibers. Diagnosis is primarily based on clinical presentation. Intraepidermal nerve fiber density can provide diagnostic confirmation with a sensitivity of 88% and a specificity of 91%. However, the possible association between vaccination and small fiber polyneuropathy is not well defined...
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27552387/bilateral-vestibulopathy-aggravates-balance-and-gait-disturbances-in-sensory-ataxic-neuropathy-dysarthria-and-ophthalmoparesis-a-case-report
#19
Roeland B van Leeuwen, Bart W Smits, Richard J Rodenburg, Baziel G van Engelen
In patients with a triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), the presenting features are mainly ataxia or ptosis. SANDO patients often have impaired balance and gait, which is not surprising considering the combination of sensory ataxic neuropathy, and additional symptoms like cerebellar ataxia and limb girdle weakness. We describe a SANDO patient who noticed an increasingly impaired balance and gait, without any dizziness. Neurological investigation revealed an external ophthalmeplegia and a cerebellar ataxia; the head impulse test was not reliable because of eye movement disorders...
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27552386/ulnar-neuropathy-at-the-elbow-in-chronic-alcohol-dependent-subjects
#20
T Zambelis, S Kanelli, E Tzavellas, T Paparrigopoulos, N Karandreas
OBJECTIVES: To evaluate the occurrence of Ulnar neuropathy at the elbow (UNE) among alcohol dependent subjects. METHOD: The study sample comprised 99 consecutive alcohol dependent subjects treated for detoxification voluntarily in the specialized unit of the Athens University Psychiatric Clinic in an inpatient basis. RESULTS: UNE was found in 51 subjects (51.5%): in 40.4% on the right side, in 44.6% on the left and in 20.1% on both. Polyneuropathy was diagnosed in 41...
September 2016: Journal of Clinical Neuromuscular Disease
journal
journal
34658
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"