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Journal of Clinical Neuromuscular Disease

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https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#1
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221311/unusual-concurrence-of-htlv-i-infection-and-polyneuropathy-organomegaly-endocrinopathy-monoclonal-plasma-cell-disorder-and-skin-changes-syndrome
#2
LETTER
Reza Boostani, Nahid Olfati
No abstract text is available yet for this article.
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221310/colq-related-congenital-myasthenic-syndrome-and-response-to-salbutamol-therapy
#3
LETTER
Hansashree Padmanabha, Arushi G Saini, Naveen Sankhyan, Pratibha Singhi
No abstract text is available yet for this article.
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221309/a-case-of-idiopathic-femoral-neuropathy-with-subsequent-quadriceps-atrophy
#4
LETTER
Elle Rathbun
No abstract text is available yet for this article.
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221308/intravenous-immunoglobulin-in-treatment-of-hereditary-neuropathy-with-liability-to-pressure-palsy
#5
LETTER
Zhong Hong Liew, Yew Long Lo
No abstract text is available yet for this article.
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221307/utility-of-neurological-imaging-in-sensory-variant-of-chronic-inflammatory-demyelinating-polyneuropathy-a-case-report
#6
Alexander G Gevorgyan, Akshay Shah, Said R Beydoun
No abstract text is available yet for this article.
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221306/whole-exome-sequencing-identifies-atypical-welander-distal-myopathy-in-patient
#7
Jennifer Gass, Patrick Blackburn, Jessica Jackson, Kimberly Harris, Duygu Selcen, Elliot Dimberg, Paldeep Atwal
Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein which serves as a key component of stress granules. This protein also regulates splicing and translation of mRNA. Our patient developed progressive weakness in his hands and feet during his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221305/a-novel-missense-variant-in-the-agrn-gene-congenital-myasthenic-syndrome-presenting-with-head-drop
#8
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/28221304/outcome-measures-in-myasthenia-gravis-incorporation-into-clinical-practice
#9
Srikanth Muppidi
The development of validated assessment tools for evaluating disease status and response to interventions in patients with myasthenia gravis (MG) has been driven by clinical studies of emerging MG therapies. However, only a small proportion of MG-focused neurology practices have adopted these assessment tools for routine clinical use. This article reviews the suitability of 5 assessment instruments for incorporation into clinical practice, which should be driven by their ability to contribute to improved patient outcomes, and to be implemented within practice personnel and resource constraints...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221303/a-case-of-asymptomatic-inclusion-body-myositis
#10
Rey Bello, Tulio Bertorini, Kartheek Ganta, William Mays
OBJECTIVES: To present a case of asymptomatic inclusion body myositis. METHODS: The authors report a case of a 67-year-old man who presented with idiopathic hyperCKemia. Physical examination including a complete neurological evaluation was unremarkable. Systemic causes of hyperCKemia, including medication side effects, metabolic and endocrine disorders, and connective tissue disorders, were ruled out with various indicated tests. RESULTS: Two and a half years after initial consultation, the patient reported left knee pain...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221302/diagnostic-criteria-for-small-fiber-neuropathy
#11
Derrick Blackmore, Zaeem A Siddiqi
OBJECTIVES: Despite its relative common occurrence, definitive diagnosis of small fiber neuropathy (SFN) remains problematic. In practice, patients with pain, numbness, and/or paresthesias in their lower limbs are diagnosed with SFN if found to have dissociated sensory loss in their feet, that is, impaired pinprick perception (PP) but relatively preserved vibration. We sought to assess the sensitivity and specificity of clinical examination and various diagnostic tools available for screening SFN...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221301/electrodiagnostic-characterization-of-hereditary-neuropathy-with-liability-to-pressure-palsies
#12
Sachiko Takahashi, Marvin Chum, Kurt Kimpinski
OBJECTIVES: The study objective was electrodiagnostic characterization of a large cohort of patients with genetically confirmed hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: A retrospective review was conducted on all patients with HNPP seen at the neuromuscular clinic (London, Canada) from 1977 to 2015. Clinical data obtained included patient characteristics, examination findings, and nerve conduction study results. RESULTS: A total of 46 patients were analyzed...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27861229/what-s-in-the-literature
#13
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
#14
LETTER
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
#15
LETTER
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
#16
LETTER
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
#17
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
#18
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
#19
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
#20
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
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