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Journal of Clinical Neuromuscular Disease

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https://www.readbyqxmd.com/read/29794580/novel-ttn-mutation-causing-congenital-myopathy
#1
Ananthanarayanan Kasinathan, Naveen Sankhyan, Pratibha Singhi
No abstract text is available yet for this article.
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794579/novel-mutation-in-anoctamin-5-gene-causing-limb-girdle-muscular-dystrophy-2l
#2
Leema Reddy Peddareddygari, Kinsi Oberoi, Ada Baisre-De Leon, Raji P Grewal
We report a 49-year-old man who presented with a history of asymmetric weakness. His neurological examination and electromyogram testing suggested the presence of a myopathy. A muscle biopsy confirmed the presence of a myopathy with several lobulated, whorled and ring fibers, and it showed no evidence of inflammation. Genetic testing of more than 50 genes known to cause myopathy was performed and demonstrates the presence of the common founder mutation in ANO5 gene c.191dupA, which he inherited from his unaffected father...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794578/fisher-pharyngeal-cervical-brachial-overlap-syndrome-with-novel-ganglioside-antibodies
#3
Swetha Pedavally, Zulma M Hernández, Lawrence A Zeidman
Several variants of Guillain-Barré syndrome have been described. The Fisher syndrome (FS) presents with ataxia, areflexia, and ophthalmoparesis. The pharyngeal-cervical-brachial (PCB) variant presents with bulbar weakness, along with arm and neck weakness. The 2 variant syndromes can overlap. Both the isolated and overlap syndromes respond to immunomodulatory treatment, thus are important to recognize clinically. Ganglioside antibodies are detectable in the variant syndromes and may aid in their diagnosis...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794577/what-is-in-the-myopathy-literature
#4
David Lacomis
This update covers the results of a randomized, placebo-controlled study that provides evidence that lamotrigine is effective in treating nondystrophic myotonias. Next, an overview of adverse effects of immune checkpoint inhibitors is provided, and the association of autoimmune myopathy and these monoclonal antibody therapies is discussed in light of recent reports. Last, the utility of electrodiagnostic testing in patients with intensive care unit weakness is addressed with emphasis on the high sensitivity and specificity of prolonged compound muscle action potential amplitudes in diagnosing critical illness myopathy...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794576/case-of-anti-single-recognition-particle-mediated-necrotizing-myopathy-after-influenza-vaccination
#5
Mansoureh Mamarabadi, Ada Baisre, Megan Leitch, Vivien Hsu, Jaya S Kanduri, Shan Chen
Immune-mediated necrotizing myopathy is a very rare inflammatory disease affecting skeletal muscles. Immune-mediated necrotizing myopathy may be associated with myositis-specific autoantibodies including anti-single recognition particle and anti-3-hydroxy-3- methylglutaryl-coenzyme A reductase, infectious agents (HIV or hepatitis C), other connective tissue disorders (such as scleroderma), and malignancy. We reported a 28-year-old healthy woman presented with subacute onset ascending muscle weakness 2 weeks after an annual influenza vaccination...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794575/distinct-clinical-and-genetic-findings-in-iranian-patients-with-glycogen-storage-disease-type-3
#6
Ferdos Nazari, Farnaz Sinaei, Yalda Nilipour, François Petit, Shahram Oveisgharan, Mohsen Nassiri-Toosi, Maryam Razzaghy-Azar, Mahdi Mahmoudi, Shahriar Nafissi
OBJECTIVES: Glycogen storage disease type 3 (GSD-III) is a rare inherited metabolic disorder caused by glycogen debranching enzyme deficiency. Various pathogenic mutations of the AGL gene lead to abnormal accumulation of glycogen in liver, skeletal, and cardiac muscles. Here, we report distinct clinical and genetic data of Iranian patients with GSD-III. METHODS: Clinical and laboratory data of 5 patients with GSD-III were recorded. Genetic investigation was performed to identify the causative mutations...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794574/lumbosacral-radiculoplexopathy-as-the-initial-presentation-of-lymphoma-a-report-of-4-cases
#7
Robert J Marquardt, Yuebing Li
OBJECTIVES: To evaluate the clinical, laboratory, and radiological features of 4 cases of biopsy-proven lymphomatous lumbosacral radiculoplexopathy. METHODS: Retrospective chart review. RESULTS: All patients suffered from diffuse large B-cell lymphoma. A mean diagnostic delay of 10 months was encountered. Presenting symptoms in all 4 patients included back pain, radicular leg pain, and leg weakness, similar to spondylotic radiculopathy. Electrodiagnostic study showed axon loss radiculoplexopathy and magnetic resonance imaging of the lumbar spine or pelvis demonstrated nerve or nerve root enhancement...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29794573/a-retrospective-analysis-of-the-safety-profile-of-intravenous-immunoglobulin-in-1176-patients-receiving-home-infusion-therapy
#8
Nizar Souayah, Ankit Pahwa, Lauren Burawski, Tamara Opila, Howard W Sander
OBJECTIVES: This analysis assessed the safety of intravenous immunoglobulin (IVIg) in the treatment of patients with neuroimmunological and immunological disorders in a home-based setting. METHODS: Adverse reactions (ARs) were assessed in a retrospective review of 1176 patients receiving 28,677 home-based IVIg infusions between 1996 and 2013. RESULTS: Of 1176 patients, 648 (55.1%) experienced IVIg-related ARs; 536 (45.6%) were mild, 78 (6...
June 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29465620/coexistence-of-ankylosing-spondylitis-and-myotonic-dystrophy-camptocormia-or-thoracic-ankylosis
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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