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Journal of Clinical Neuromuscular Disease

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https://www.readbyqxmd.com/read/28538257/what-s-in-the-literature
#1
Mark Bromberg, Nicholas J Silvestri, David Lacomis
In this edition, we provide a detailed summary of an informative book, "GBS100: Celebrating a Century of Progress in Guillain-Barré Syndrome" developed by the Peripheral Nerve Society to honor the centenary of the original paper on Guillain-Barré Syndrome. We also review various studies in myasthenia gravis including: management with rituximab; the efficacy of early fast-acting treatment with corticosteroids; and various dosing strategies for tacrolimus. Finally, we review new studies including: the potential pathogenesis, risk factors, and functional decline of patients with inclusion body myositis; MxA immunoreactivity in dermatomyositis; diagnostic approaches for evaluating patients with myalgia, fatigue, and exercise intolerance; MRI patterns in genetic muscle disease; and MRI as an outcome measure in facioscapulohumeral muscular dystrophy...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538256/spinocerebellar-ataxia-type-2-with-onset-at-toddlerhood
#2
Ananthanarayanan Kasinathan, Arushi G Saini, Naveen Sankhyan, Pratibha Singhi
No abstract text is available yet for this article.
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538255/a-man-with-distal-asymmetric-leg-weakness
#3
Rey Bello, Tulio Bertorini
EDUCATIONAL OBJECTIVES: To discuss a case of adult-onset asymmetric distal leg weakness in a patient who presented with weakness and atrophy of the posterior compartment of the left leg. KEY QUESTIONS: 1. What is the differential diagnosis of asymmetric distal leg weakness?2. How would a clinician approach diagnostic testing for such a patient?3. What is the final diagnosis for this patient?4. How to treat this patient?
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538254/acute-demyelinating-polyneuropathy-as-presentation-of-hereditary-neuropathy-with-liability-to-pressure-palsies-in-a-patient-who-exercised-regularly-in-the-army
#4
Malathi Perugula, Gulshan Uppal, Miguel Chuquilin
Acute generalized neuropathy as the presenting manifestation of hereditary neuropathy with liability to pressure palsies (HNPP) is rare. We report a 19-year-old Army recruit who exercised regularly for 9 months and presented with 2 weeks of numbness, tingling, and weakness in both upper and lower extremities, starting 2 weeks after influenza vaccination and 1 day after vigorous exercise. Based on acute onset, clinical examination and electrophysiological findings, Guillain-Barre syndrome was diagnosed, and intravenous immunoglobulin was administered with minimal improvement...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538253/immune-myopathy-with-perimysial-pathology-associated-with-interstitial-lung-disease-and-anti-ej-antibodies
#5
Patrick M Kwon, Lan Zhou, Rajeev Motiwala, Leslie D Kerr, Susan C Shin
OBJECTIVES: We report a case of immune myopathy with perimysial pathology associated with anti-glycyl-transfer RNA synthetase (anti-EJ) antibody and an excellent treatment response. METHODS: Chart review. RESULTS: A 36-year-old woman presented with 3 months of fatigue, weight loss, progressive weakness in a scapuloperoneal distribution, and dysphagia. Nerve conduction studies, electromyography, and ultrasound suggested an irritable myopathy...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538252/concurrent-paraspinous-myopathy-and-myasthenia-gravis
#6
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/28538251/hyponatremia-in-guillain-barr%C3%A3-syndrome
#7
Kavelin Rumalla, Adithi Y Reddy, Vijay Letchuman, Manoj K Mittal
OBJECTIVES: To evaluate incidence, risk factors, and in-hospital outcomes associated with hyponatremia in patients hospitalized for Guillain-Barré Syndrome (GBS). METHODS: We identified adult patients with GBS in the Nationwide Inpatient Sample (2002-2011). Univariate and multivariable analyses were used. RESULTS: Among 54,778 patients hospitalized for GBS, the incidence of hyponatremia was 11.8% (compared with 4.0% in non-GBS patients) and increased from 6...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28538250/cardiac-abnormalities-in-type-1-facioscapulohumeral-muscular-dystrophy
#8
Fabien Labombarda, Maxime Maurice, Jean-Philippe Simon, Damien Legallois, Lucie Guyant-Maréchal, Anne-Laure Bedat-Millet, Philippe Merle, Eric Saloux, Françoise Chapon, Paul Milliez
OBJECTIVES: We conducted a retrospective study to characterize the cardiac complications in patients with genetically confirmed type 1 facioscapulohumeral dystrophy. METHODS: We reviewed baseline cardiac investigations, including electrocardiogram, Holter electrocardiogram and echocardiogram, as well as cardiac complications that occurred during follow-up in 56 adult patients (37 men, mean duration of disease: 20 years). RESULTS: Baseline evaluation revealed minor cardiac anomalies in 23 patients including incomplete right bundle branch block (iRBBB) in 13 patients (23%)...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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