Journal of Clinical Neuromuscular Disease 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Patient With 2 Hematologic Malignancies Presenting as Neurolymphomatosis
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. Electrodiagnostic studies...
Source: Journal of Clinical Neuromuscular Disease - February 22, 2018 Category: Neurology Tags: Case Review Source Type: research
Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy
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. These cases demonstrate that next-gen...
Source: Journal of Clinical Neuromuscular Disease - February 22, 2018 Category: Neurology Tags: Case Review Source Type: research
COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study
Conclusions:COL6A has unique skin changes, central cloud appearance on muscle ultrasound. LAMA2 has demyelinating polyneuropathy and white matter changes on brain imaging. The presence of neurogenic changes on EMG and muscle histology in COL6A suggests motor axonal neuropathy. Genetic testing remains the gold standard in confirming COL6A congenital muscular dystrophy.
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 i...
Source: Journal of Clinical Neuromuscular Disease - February 22, 2018 Category: Neurology Tags: Original Article Source Type: research
Novel Myelin Protein Zero Mutation in 3 Generations of Vermonters With Demyelinating Charcot–Marie–Tooth Disease
Conclusions:The novel MPZ base-pair substitution in this family is associated with inherited distal demyelinating neuropathy and should be reclassified as pathogenic for Charcot–Marie–Tooth.
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 pe...
Source: Journal of Clinical Neuromuscular Disease - February 22, 2018 Category: Neurology Tags: Original Article Source Type: research
Weakness, Hypokalemia, and Dengue
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Letters to the Editor Source Type: research
Paraneoplastic Necrotizing Myopathy Associated With Neuroendocrine Carcinoma
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Letters to the Editor Source Type: research
Unusual Case of Facioscapulohumeral Dystrophy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Letters to the Editor Source Type: research
Atypical Asymmetric Guillain–Barré Syndrome With Acute Rhabdomyolysis
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Letters to the Editor Source Type: research
What is in the Literature?
Abstract
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)]. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Review Article Source Type: research
Paraneoplastic Lambert–Eaton Myasthenic Syndrome With Limbic Encephalitis: Clinical Correlation With the Coexistence of Anti-VGCC and Anti-GABAB Receptor Antibodies
Conclusions:
This case describes a patient with Lambert–Eaton myasthenic syndrome, limbic encephalitis, and autoantibodies to VGCC and GABAB receptor. Atypical presentation of paraneoplastic neurological syndromes could indicate the presence of a second antibody that may have significant impact on therapy. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Case Review Source Type: research
Guillain–Barré Syndrome Triggered by Immune Checkpoint Inhibitors: A Case Report and Literature Review
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. All patients were treated with intravenous immunoglobulin or other immunomodulating therapy. Among 5 cases which include our patient, 2 did well, 1 did not improve, and 2 died of respiratory insufficiency and multiorgan failure. Enhancing T-ce...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Case Review Source Type: research
Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1
Abstract
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. Quantitative sudomotor axon reflex test showed nonlength dependent de...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Case Review Source Type: research
Distinguishing Features of the Repetitive Nerve Stimulation Test Between Lambert–Eaton Myasthenic Syndrome and Myasthenia Gravis, 50-Year Reappraisal
Conclusions:
Distinguishing features of the RNS test in LEMS and MG are confirmed in this direct comparison study: the low compound muscle action potential amplitude, decrement at LRS, and increment at high-rate stimulation or postexercise facilitation for LEMS and normal compound muscle action potential amplitude and decrement at LRS for MG. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Original Article Source Type: research
Pediatric CIDP: Clinical Features and Response to Treatment
Conclusions:
Pulse oral corticosteroid therapy holds promise as an alternative treatment to IVIG in pediatric CIDP. Future multicenter studies are warranted to determine the comparative efficacy and safety of weekly pulse oral corticosteroids versus IVIg in pediatric CIDP. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Original Article Source Type: research
Outcome of Guillain–Barré Syndrome in Tertiary Care Centers in Thailand
Background:
Guillain–Barré syndrome (GBS), a common acute polyneuropathy, is seen worldwide with significant morbidity and mortality. GBS consists of a number of subtypes.
Objective:
The aim of this study is to identify clinical characteristics, electrophysiologic changes, clinical course, treatment, and outcome of GBS in Thailand.
Material and Methods:
Retrospective study of GBS patients aged 15 years or older, admitted to Thammasat University Hospital and Bangkok Hospital Medical Center between January 1, 2009 and November 30, 2014.
Results:
Thirty patients were found. Demographic characteristics were colle...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2017 Category: Neurology Tags: Original Article Source Type: research
