Journal of Clinical Neuromuscular Disease 
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.
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.Spinal Epidural Venous Plexus Pathology in Hirayama Disease
We present the case of an 18-year-old man who presented with weakness and atrophy of the right forearm and hand. Dynamic cervical magnetic resonance imaging was used, revealing the classic findings of epidural venous plexus dilation and anterior displacement of the dural sac. In addition, dilation of the external vertebral venous plexus was visualized. We discuss the clinical utility of dynamic magnetic resonance imaging and the underlying pathophysiology of these findings in Hirayama disease. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Short Report Source Type: research
Clinico-Genotypic Correlation: Recurrent Attacks of Paralysis and Skeletal Muscle: SCN4A: Mutation (p.Ile693Thr)
We describe the clinical features of proband in our case report and the various phenotypic manifestations described with the mentioned mutation from different centres. Our case serves to highlight the heterogeneity that exists in SCN4A mutations and the possible effect of other genetic/environmental factors in determining the final phenotype. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Short Report Source Type: research
Rapid Recovery With Plasma Exchange in Acute Motor Axonal Neuropathy With Reversible Conduction Failure
We describe 2 cases of seronegative acute motor axonal neuropathy with RCF with a rapid onset of severe quadriplegia. Treatment with plasma exchange was associated with rapid clinical and electrophysiological response on serial examinations. Increased recognition of RCF may lead to improved characterization of GBS subtypes and may play a role in determining future treatment options in GBS. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Case Review Source Type: research
Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations
We describe here 2 unrelated adult patients who presented with a LG CMS, caused by 2 compound heterozygous pathogenic sequence variants in DOK7: c.1124_1127dupTGCC (P.Ala378Serfs*30) and c.480C> A (p.Tyr160*).
Results:
Although both patients presented with severe proximal weakness consistent with LG myasthenia, one of the patients presented with additional distal muscle involvement in the lower extremities. By contrast, the other patient had severe bulbar and respiratory deficit requiring gastric tube feeding and mechanical ventilatory support for most parts of the day.
Discussion:
These 2 cases illustrate the lack o...
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Case Review Source Type: research
Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family
Hereditary axonal motor and sensory neuropathy or Charcot–Marie–Tooth type 2 (CMT2) is a common inherited peripheral neuropathy. Major symptomatologic signs vary from minimal to significant weakness and loss of sensation, feet usually affected more than hands. It may also cause visual acuity impairment, hearing loss, and skeletal deformity. CMT2 classification is based on the clinical, electrophysiological, and genetic inheritance pattern. Dominant CMT2 is classified from CMT2A to CMT2N and recessive CMT2 into CMT2B1 and CMT2B2. CMT2A is the most frequent subtype of CMT2 and caused by mutations in the mitofusin 2 (MFN2...
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Case Review Source Type: research
Favorable Response in Statin-Naive Paraneoplastic Anti-HMGCR Antibody–Associated Myopathy to Single Dose of Rituximab and Persistent Remission With Management of Underlying Lung Cancer
We report a case of a statin-naive paraneoplastic anti-HMGCR myopathy, who unlike other reported cases, responded to a single dose of 1000 mg of intravenous rituximab and subsequent chemoradiation therapy for an underlying lung cancer, despite failing to completely respond to prior high-dose oral prednisone and methotrexate. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Case Review Source Type: research
What is in the Myopathy Literature?
In this issue, an article describing a newly defined entity, myoglobinopathy, is covered. This autosomal-dominant, adult-onset, proximal-predominant myopathy may be associated with cardiac involvement and is due to a mutation in MB. The presence of sarcoplasmic bodies is distinctive in muscle biopsy specimens. Next, variability in phenotypes and genotypes in patients with RYR1 and TTN mutations is described. Several articles address respiratory dysfunction in myotonic dystrophy type 1, reporting that its severity is associated with the CTG-repeat size, age, and degree of muscle weakness. Several articles focus on muscle pa...
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Review Article Source Type: research
Phenotypes of Late-Onset Transthyretin Amyloid Neuropathy: A Diagnostic Challenge
We present a case series of 4 patients with late-onset hATTR neuropathy who were initially diagnosed with vasculitic neuropathy and chronic inflammatory demyelinating polyneuropathy to illustrate diagnostic challenges encountered with hATTR. Early diagnosis is even more urgent now given the availability of disease modifying treatments. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2019 Category: Neurology Tags: Original Article Source Type: research
Adult Diagnosis of Type 1 Fiber Predominance Myopathy Caused by Novel Mutations in the RYR1 Gene
We describe a 57-year-old patient with mild diffuse weakness that was incidentally detected when he was evaluated for restless leg syndrome. An electromyography confirmed the presence of a myopathy without suggestion of inflammatory myopathy. A muscle biopsy demonstrated type 1 fiber predominance with minimal inflammatory features suggesting a genetic myopathy. Exome sequencing revealed c.10648C> T variant (p.R3550W), and a novel variant, c.10749_10753delGGAGG (E3584Rfs*3), in the ryanodine receptor 1 (RYR1) gene transmitted through his asymptomatic father indicating these mutations are in trans. Prompted by these results,...
Source: Journal of Clinical Neuromuscular Disease - May 28, 2019 Category: Neurology Tags: Short Report Source Type: research
Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient
We report a 52-year-old IJ woman who presented with a 20-year history of progressive distal muscle weakness. Physical examination and magnetic resonance imaging revealed lower-extremity weakness and atrophy. Electromyography confirmed myopathy. Genetic testing showed no mutations on the GNE gene. Muscle histochemistry demonstrated no rimmed vacuoles. The analysis of polysialylated neural cell adhesion molecule Western blot pattern was negative. Non-GNE myopathy with quadriceps sparing presentation has been previously described in a few cases of non-IJ descents. To the best of our knowledge, this is the first case of an IJ ...
Source: Journal of Clinical Neuromuscular Disease - May 28, 2019 Category: Neurology Tags: Short Report Source Type: research
Transthyretin Amyloidosis Presenting With Upper-Extremity Neuropathy and Paucity of Autonomic Impairment
We report a 73-year-old man with Val142Ile transthyretin (TTR) amyloidosis and an atypical clinical presentation of upper-extremity–predominant neuropathy without significant autonomic or cardiac involvement. TTR familial amyloid polyneuropathy commonly presents as length-dependent sensorimotor polyneuropathy with marked and early autonomic involvement. Multiple pathogenic mutations in TTR gene have been identified, of which Val50Met is commonly associated with TTR familial amyloid polyneuropathy, and Val142Ile is commonly associated with familial amyloid cardiomyopathy. Our patient is from a nonendemic region, without f...
Source: Journal of Clinical Neuromuscular Disease - May 28, 2019 Category: Neurology Tags: Short Report Source Type: research
Reversible Conduction Failure in Chronic Immune-Mediated Sensorimotor and Autonomic Polyneuropathy
We describe the presence of RCF lasting for at least 9 months or longer without secondary axonal degeneration in a case of chronic sensorimotor and autonomic polyneuropathy. A 63-year-old woman presented with lower back pain, limb pain, paresthesia, and weakness after a sinus infection. She was diagnosed with mild Guillain–Barre syndrome and treated symptomatically. Four months later, she developed symptoms of dysautonomia and worsening neuropathic pain, and treatment with intravenous immunoglobulin led to significant clinical improvement. Electrodiagnostic study revealed significant improvement, manifesting as increased...
Source: Journal of Clinical Neuromuscular Disease - May 28, 2019 Category: Neurology Tags: Case Review Source Type: research
Severe Relapse of Vaccine-Induced Guillain–Barré Syndrome After Treatment With Nivolumab
We present a patient who developed a severe and fatal relapse of postvaccination GBS after he was treated with nivolumab, a monoclonal antibody directed to programmed death–1 (PD-1), during a GBS treatment-related fluctuation. We recommend that caution be exercised in starting treatment with PD-1 inhibitors in the acute stage or early in the recovery period of GBS. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2019 Category: Neurology Tags: Case Review Source Type: research
Immunoglobulin Treatment in Neuromuscular Medicine
This article will review the indications, proposed mechanism of actions, and administration of immunoglobulin treatment in various neuropathies, neuromuscular junction disorders, and myopathies. IVIg may have more than one mechanism of action to alter the pathogenesis of underlying neuromuscular disease. IVIg treatment has been used as a first-line treatment in Guillain–Barre syndrome, chronic inflammatory demyelinating polyradiculoneuropathy, multifocal motor neuropathy, and second-line off-label treatment in medically refractory cases of polymyositis, dermatomyositis, and myasthenia gravis. IVIg is a well-tolerated and...
Source: Journal of Clinical Neuromuscular Disease - May 28, 2019 Category: Neurology Tags: Review Article Source Type: research
Impact of Refractory Myasthenia Gravis on Health-Related Quality of Life
Objectives:
Myasthenia gravis (MG) may be refractory to traditional therapies. Quality of life (QOL) and disease burden in patients with refractory and nonrefractory MG were compared using Myasthenia Gravis Foundation of America MG Patient Registry data.
Methods:
Adults aged 18 years or older with MG diagnosed ≥2 years before enrollment were included. Participants with refractory MG had received ≥2 previous and 1 current MG treatment and had MG Activities of Daily Living Scale total score ≥6 at enrollment; other participants had nonrefractory MG. MG QOL 15-item scale (MG-QOL15) scores were compared.
Results:
...
Source: Journal of Clinical Neuromuscular Disease - May 28, 2019 Category: Neurology Tags: Original Article Source Type: research
