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Journal of Clinical Neuromuscular Disease

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https://www.readbyqxmd.com/read/29465620/coexistence-of-ankylosing-spondylitis-and-myotonic-dystrophy-camptocormia-or-thoracic-ankylosis
#1
Ozgur Z Karaahmet, Fatma Balli, Ajda Bal, Eda Gurcay, Aytul Cakci
No abstract text is available yet for this article.
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465619/miller-fisher-syndrome-with-botulism-toxin-ingestion-the-ultimate-descending-paralysis
#2
Mitch J Hargis, Melissa Howdeshell
No abstract text is available yet for this article.
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465618/case-of-charcot-marie-tooth-type-2c-due-to-a-trpv4-gene-mutation-with-isolated-sudomotor-autonomic-dysfunction
#3
Jacquie Baker, Kurt Kimpinski
No abstract text is available yet for this article.
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465617/hypoglycemia-in-a-patient-with-facioscapulohumeral-muscular-dystrophy
#4
Carlos Esteban Builes-Montaño, Manuel Alejandro Nieto Gonzalez, Dora Lilia Hernandez
No abstract text is available yet for this article.
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465616/asymmetric-muscle-involvement-in-an-indian-family-with-central-core-myopathy
#5
Razia K Adam, Ananthanarayanan Kasinathan, Naveen Sankhyan, Pratibha Singhi
No abstract text is available yet for this article.
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465615/peripheral-vasculitic-neuropathy-associated-with-minocycline-use
#6
Min K Kang, Rajesh K Gupta, Jayashri Srinivasan
We describe 2 patients presenting with multiplex mononeuritis, associated with skin manifestation, secondary to minocycline-induced vasculitis. One of the cases is associated neither with lupus nor polyarteritis nodosa. An extensive laboratory workup ruled out any possible underlying immunologic disorder. Electrodiagnostic studies were conducted to show axonal neuropathy in patchy and multifocal distribution consistent with multiplex mononeuritis. This diagnosis was confirmed with nerve biopsy. Withdrawing from the offending medication, minocycline, improved the patients' clinical condition and the quantitative serological measures...
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465614/radiation-induced-painful-neurogenic-hypertrophy-treated-with-botulinum-toxin-a
#7
Alexandra Filippakis, Doreen T Ho, Juan E Small, Kirstin M Small, Erik R Ensrud
Painful neurogenic hypertrophy is a rare complication of radiation therapy. We report a 27-year-old woman with a history of adenoid cystic carcinoma of the submandibular gland presented with painful twitching of her left shoulder. Electrodiagnostic studies were consistent with a diagnosis of radiation-induced spinal accessory nerve hyperactivity. The patient failed conventional medical therapy. She was treated with an injection of botulinum toxin A, and within 1 month experienced significant relief of symptoms...
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465613/what-is-in-the-myopathy-literature
#8
David Lacomis
This review is focused on recent reports of sporadic inclusion body myositis (sIBM), myopathy in patients with human immunodeficiency virus type 1 (HIV) infection, and necrotizing autoimmune myopathy with antibodies to signal recognition particle. The sIBM articles cover associations with certain genetic polymorphisms, the possible pathogenic role of anti-cytosolic 5'-nucleotidase 1A antibody, and disease-related burden and health care costs. Another article addressed the possible pathogenic role of signal recognition particle antibody in necrotizing myopathy...
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465612/patient-with-2-hematologic-malignancies-presenting-as-neurolymphomatosis
#9
Ahmad Daher, Carlos Kamiya-Matsuoka, Karin Woodman
Peripheral nervous system damage from hematologic malignancies is related to neoplastic cells infiltration of peripheral nerves or to monoclonal antibody production cross-reacting with peripheral nerves' antigens. Neurolymphomatosis (NL), a rare manifestation of hematologic malignancies, occurs when malignant cells invade the peripheral nerves leading to various manifestations. Here, we report a case of NL with 2 hematologic malignancies in a 79-year-old woman presenting with lower extremity pain/weakness. Investigation revealed anemia, IgM kappa monoclonal gammopathy, and elevated anti-MAG titer...
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465611/mitochondrial-dna-deletions-with-low-level-heteroplasmy-in-adult-onset-myopathy
#10
Doris G Leung, Julie S Cohen, Elizabeth Harlan Michelle, Renkui Bai, Andrew L Mammen, Lisa Christopher-Stine
We report the cases of 2 patients who presented to our Myositis Center with myalgias and elevated creatine kinase levels. Muscle biopsy showed pathological features consistent with mitochondrial myopathy. In both cases, a single large deletion in mitochondrial DNA at low-level heteroplasmy was identified by next-generation sequencing in muscle tissue. In 1 case, the deletion was identified in muscle tissue but not blood. In both cases, the deletion was only identified on next-generation sequencing of muscle mitochondrial DNA and missed on array comparative genome hybridization testing...
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465610/col6a-and-lama2-mutation-congenital-muscular-dystrophy-a-clinical-and-electrophysiological-study
#11
Sumit Verma, Parul Goyal, Lokesh Guglani, Charlotte Peinhardt, Diane Pelzek, Paul E Barkhaus
OBJECTIVES: COL6A and LAMA2 are subtypes of congenital muscular dystrophy. METHODS: Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data in genetically confirmed COL6A and LAMA2 subjects. RESULTS: We identified 8 COL6A and 6 LAMA2 subjects: the female-to-male ratio was 1.3:1 and the mean age was 11.9 ± 3.6 years. Gross motor delays since birth, proximal muscle weakness, and contractures were noted in both groups...
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465609/novel-myelin-protein-zero-mutation-in-3-generations-of-vermonters-with-demyelinating-charcot-marie-tooth-disease
#12
David K Lorance, Kelly A Mandigo, Michael K Hehir
OBJECTIVES: We report the clinical phenotype in 3 consecutive generations with demyelinating Charcot-Marie-Tooth disease that possess a novel sequence variant of myelin protein zero (MPZ). METHODS: Family members from 3 consecutive generations were interviewed, examined, and studied with electrodiagnostic testing. Commercially available next-generation sequencing was performed for the proband. Single-gene analysis was performed for the remaining family members. RESULTS: All patients demonstrated symmetric distal weakness; symmetric distal sensory loss; and diminished deep tendon reflexes...
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189559/weakness-hypokalemia-and-dengue
#13
Viroj Wiwanitkit
No abstract text is available yet for this article.
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189558/paraneoplastic-necrotizing-myopathy-associated-with-neuroendocrine-carcinoma
#14
Kongkiat Kulkantrakorn, Tumtip Sangruchi
No abstract text is available yet for this article.
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189557/unusual-case-of-facioscapulohumeral-dystrophy
#15
Bhavesh Trikamji, Margaret Adler
No abstract text is available yet for this article.
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189556/atypical-asymmetric-guillain-barr%C3%A3-syndrome-with-acute-rhabdomyolysis
#16
Mitch J Hargis
No abstract text is available yet for this article.
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189555/what-is-in-the-literature
#17
Mark B Bromberg
This edition of "What is in the Literature?" will focus on motor neuron disease (MND), including adult forms [amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), progressive bulbar palsy (PBA), and monomelic mononeuropathy (MMND)], and childhood forms [spinal muscle atrophy (SMA)].
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189554/paraneoplastic-lambert-eaton-myasthenic-syndrome-with-limbic-encephalitis-clinical-correlation-with-the-coexistence-of-anti-vgcc-and-anti-gabab-receptor-antibodies
#18
Jonathan J Cho, James P Wymer
OBJECTIVE: To characterize Lambert-Eaton myasthenic syndrome and limbic encephalitis with coexistent voltage-gated calcium channel (VGCC) antibody and γ-aminobutyric acid (GABA) B receptor antibody. METHODS: Case study. RESULTS: A 57-year-old man presented with 6 months of weakness, unsteadiness, and vision difficulties. Examination revealed proximal weakness and diminished reflexes. Electrodiagnostic study revealed low-amplitude motor potentials and facilitation on high-frequency stimulation...
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189553/guillain-barr%C3%A3-syndrome-triggered-by-immune-checkpoint-inhibitors-a-case-report-and-literature-review
#19
Songkit Supakornnumporn, Bashar Katirji
Immune checkpoint inhibitors, used as immunotherapy in the treatment of melanoma and refractory cancer, may trigger autoimmune disorders. We describe a case of Guillain-Barré syndrome (GBS) after the treatment with ipilimumab and nivolumab and review 4 other reported cases. We confirmed the diagnosis of GBS by electrodiagnostic and cerebrospinal fluid studies. Electrodiagnostic results showed findings consistent with acquired demyelinating polyneuropathy and cerebrospinal fluid showed albuminocytologic dissociation...
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29189552/autonomic-reflex-screen-test-abnormalities-in-cold-induced-sweating-syndrome-type-1
#20
Ahmed M El-Dokla, Jannatul Ferdous, Sara T Ali, Khondoker Alam
Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disease due to mutation in the Cytokine receptor-like factor 1 (CRLF1). The characteristic symptom of CISS is the tendency to sweat profusely especially in the upper body and hands when the patient is exposed to cold temperature. We sought to first report the findings of autonomic reflex screen in a case of CISS type 1 with Cytokine receptor-like factor 1 mutation. Valsalva morphology, Valsalva ratio, and heart rate response to deep breathing were normal for the patient's age...
December 2017: Journal of Clinical Neuromuscular Disease
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