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 resul...
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, witho...
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 incre...
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...
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

Ultrasound in Multifocal Motor Neuropathy: Clinical and Electrophysiological Correlations
Conclusions: Peripheral nerve US shows promise as a diagnostic tool in MMN and may be helpful to distinguish MMN from motor neuron disease. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2019 Category: Neurology Tags: Original Article Source Type: research

41st ANNUAL CARRELL-KRUSEN NEUROMUSCULAR SYMPOSIUM, Dallas, Texas February 21–22, 2019
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 24, 2019 Category: Neurology Tags: Abstracts Source Type: research

41st ANNUAL CARRELL-KRUSEN NEUROMUSCULAR SYMPOSIUM, Dallas, Texas February 21–22, 2019: Meeting Convenor: Susan T. Iannaccone, MD, FAAN
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Abstracts Source Type: research

Muscle Hypertrophy in a Child With Progressive Weakness–Thinking Beyond Muscular Dystrophy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Joint Hyperlaxity, Proximal Contractures, and Facial Weakness in Child With Spinal Muscular Atrophy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Influence of Body Mass Index and Prealbumin Levels on Lung Function in Patients With Spinal Muscular Atrophy: A Pilot Study
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Thenar Hypertrophy and Electrical Myotonia in Pompe Disease
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

What Is in the Myopathy Literature?
We review the development of exon 51 skipping therapy with eteplirsen for Duchenne muscular dystrophy, including the recent report of long-term, sustained dystrophin production. Studies of the late-life health profile of patients with Duchenne muscular dystrophy, early detection of left ventricular systolic dysfunction, and caregiver burden are also covered. A study of skeletal muscle magnetic resonance imaging in dysferlinopathies provides an extensive, detailed map of the involved muscles and consistency across phenotypes. Regarding the category of autoimmune myopathies, we discuss an article on the clinical and laborato...
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Review Article Source Type: research

Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis
In this report, we describe a man with late-onset cardiac amyloidosis due to a transthyretin Thr60Ala mutation who was treated with an investigational RNAi therapeutic, revusiran, which targets hepatic transthyretin production. Sixteen months into treatment, he developed bilateral lower-extremity weakness and numbness, worsening balance, difficulty manipulating objects with his hands, and finger numbness. Nerve conduction studies were consistent with multifocal demyelinating neuropathy. Intravenous immunoglobulin therapy improved sensation in his hands and feet, and improved hand dexterity. A sural nerve biopsy demonstrate...
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Case Review Source Type: research

Amifampridine Phosphate (Firdapse) Is Effective in a Confirmatory Phase 3 Clinical Trial in LEMS
Conclusions: This phase 3 randomized, double-blind, placebo-controlled withdrawal trial in adults with LEMS provided class I evidence of efficacy of amifampridine phosphate as symptomatic treatment in LEMS. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Original Article Source Type: research

Prevalence of Axonal Sensory Neuropathy With IgM Binding to Trisulfated Heparin Disaccharide in Patients With Fibromyalgia
Conclusions: This study further supports the hypothesis that a subgroup of patients with FM has SFN. We suggest a correlation between the presence of NLDSFN and TS-HDS antibodies. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Original Article Source Type: research

Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction: A 3-Year Follow-up of a Child Patient
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Immune Checkpoint Inhibitors and Myasthenic Syndromes: A Case Report of a Metastatic Renal Cell Carcinoma Patient Treated With Nivolumab
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Toxic Myopathy due to Antidopaminergic Medication Without Neuroleptic Malignant Syndrome
We report a 29-year-old man with history of obsessive compulsive disorder and Tourette syndrome who presented with 2 months of worsening dyspnea 3 weeks after starting ziprasidone 40 mg daily that required mechanical ventilation. A year before, after an increased risperidone dose from 0.5 to 1 mg daily, he had developed proximal muscle weakness that spontaneously improved 2 months after discontinuation of risperidone. On this admission, his creatine kinase (CK) was 3318 units/L, and ziprasidone was discontinued. He fully recovered 2 months after discontinuation of ziprasidone, and his CK was 62 units/L. Genetic testing for...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Short Report Source Type: research

Current Cardiac Imaging Approaches in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular condition caused by mutations in the dystrophin gene leading to skeletal muscle weakness and dilated cardiomyopathy. The prevalence of DMD-related cardiomyopathy increases with age and is almost universal by the third decade of life. Myocardial fibrosis and progressive left ventricular dysfunction lead to the development of heart failure and premature death. With modern advances in medical and surgical management for patients with DMD increasing their life expectancy, cardiac dysfunction represents an increasing cause of morbidity and mortality in these patient...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Review Article Source Type: research

What is in the Neuromuscular Junction Literature?
This update begins with myasthenia gravis and the roles of anti-agrin and cortactin antibodies. Regarding diagnosis, a report on repeated ice pack testing is highlighted as are several reports on the close correlation of electrodiagnostic testing with clinical features and the response to treatment. The incidence of head drop and associated clinical and ventilatory features are gleaned from a retrospective study. We also discuss a study that assessed the predominantly symmetric and conjugate ocular findings in MuSK-myasthenia gravis. Other topics that are covered include quality of life and preoperative risk. We then summa...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Review Article Source Type: research

Gender Differences in Skin Biopsy Findings in Small Fiber Neuropathy: A Retrospective Chart Review
Objectives: To determine whether there are gender differences in the clinical presentation or skin biopsy measures of nerve fiber density in patients with small fiber neuropathy (SFN). Methods: Retrospective chart review of subjects with suspected SFN. Results: Of 218 cases (137 women and 81 men) with suspected SFN, 96 (44%), including 63% of the men and 33% of the women (P (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Original Article Source Type: research

Poor Sleep Quality in Patients With Amyotrophic Lateral Sclerosis at the Time of Diagnosis
Conclusions: Patients with newly diagnosed ALS have poor sleep quality, which is associated with depression and difficulty turning in bed. Longitudinal studies to examine the evolution of sleep quality and the effectiveness of individualized interventions are needed in patients with ALS. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Original Article Source Type: research

Satisfactory Response With Achieving Maintenance Low-Dose Prednisone in Generalized Myasthenia Gravis
Conclusions: Nearly half of the generalized myasthenia gravis patients who were not taking an SSI achieved an SR. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Original Article Source Type: research

Clinical Variability in 2 Siblings With Late-Onset Pompe Disease
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Evolving Electrodiagnostic and Radiologic Findings in a Case of Ganglionopathy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Image Source Type: research

Case of Early Amyotrophic Lateral Sclerosis With Prominent Magnetic Resonance Imaging Plexus Abnormalities
This report illustrates that MRI plexus abnormalities can be seen in amyotrophic lateral sclerosis, possibly before symptoms, and may have clinical value in the diagnostic process. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Case Review Source Type: research

FGFR3 Antibodies in Neuropathy: What to Do With Them?
Conclusions: Our case series highlights the variability and inconsistency in FGFR3 antibody titers through enzyme-linked immunosorbent assay testing. These antibody titers should always be interpreted with caution in clinical context. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Short Report Source Type: research

Autoimmune Neuromuscular Diseases Induced by Immunomodulating Drugs
Immunomodulating drugs are widely used in autoimmune, transplant, and cancer patients. However, these drugs are associated with various autoimmune neuromuscular diseases such as demyelinating polyneuropathy, myasthenia gravis, and myositis. Early recognition of these complications and immediately terminating these drugs are very essential since some are life-threatening conditions. This review provides a general overview of drug-induced autoimmunity and autoimmune neuromuscular diseases associated with tumor necrosis factor alpha (TNF-α) antagonists, immune checkpoint inhibitors, and interferon (IFN) type 1 (IFN-&bet...
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Review Article Source Type: research

Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort
Conclusions: Targeted screening of 5 genes is an effective alternate test for CMS, and an affordable one even in a developing country such as India. In addition, we recommend that patients with isolated limb-girdle congenital myasthenia be screened initially for the common COLQ pathogenic variant. This study throws the first light on the genetic landscape of CMSs in India. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Original Article Source Type: research

Inflammatory Diabetic Neuropathy: Helpful Diagnostic Parameters
Conclusions: Features that favor IDN over DPN are limb weakness, more severe nerve conduction abnormalities, inflammatory infiltrates on nerve biopsy, and a favorable response to immunotherapy. A nerve biopsy can help establish an inflammatory cause. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Original Article Source Type: research

Low Sensitivity of Skin Biopsy in Diagnosing Small Fiber Neuropathy in Chinese Americans
Objectives: To compare skin biopsy sensitivity for diagnosing small fiber sensory neuropathy in Chinese American and non-Chinese American patients. Methods: We screened our skin biopsy database and performed chart review to identify Chinese and non-Chinese American patients with a high clinical suspicion for a distal small fiber sensory neuropathy, and compared the skin biopsy sensitivity. Results: Twenty-three Chinese American and 32 non-Chinese American patients with the presence of distal small fiber sensory symptoms and signs were studied. Intraepidermal nerve fiber density (IENFD) (fibers/mm) at the distal leg...
Source: Journal of Clinical Neuromuscular Disease - August 24, 2018 Category: Neurology Tags: Original Article Source Type: research

Novel TTN Mutation Causing Congenital Myopathy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L
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. In addition, he inherited a novel mutation, c.1063C>T (p.L355F) in exon 11 of ANO5 gene from his un...
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Short Report Source Type: research

Fisher–Pharyngeal–Cervical–Brachial Overlap Syndrome With Novel Ganglioside Antibodies
We present a case of overlap FS–PCB syndrome with a novel ganglioside antibody profile of GM1 and GD1b antibodies, which typically are associated with other variant syndromes. This case suggests the need for all ganglioside antibodies to be tested in suspected variant Guillain–Barré syndromes. The antibodies may prove especially useful in cases in which the clinical diagnosis is ambiguous. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Short Report Source Type: research

What is in the Myopathy Literature?
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. (So...
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Review Article Source Type: research

Case of Anti–Single Recognition Particle–Mediated Necrotizing Myopathy After Influenza Vaccination
We reported a 28-year-old healthy woman presented with subacute onset ascending muscle weakness 2 weeks after an annual influenza vaccination. Cerebral Spinal Fluid study showed normal cell counts with elevated protein and nerve conduction study showed reduced diffuse compound muscle action potential amplitudes suggesting a diagnosis of Guillain–Barré syndrome. Despite treatment using intravenous immunoglobulin, her condition continued to get worse with new bulbar and respiratory muscle weakness. Eventually, the diagnosis of anti–single recognition particle–mediated necrotizing myopathy was made ba...
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Case Review Source Type: research

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3
Conclusions: This is the first comprehensive report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Original Article Source Type: research

Lumbosacral Radiculoplexopathy as the Initial Presentation of Lymphoma: A Report of 4 Cases
Conclusions: Lymphomatous lumbosacral radiculoplexopathy should be considered in patients with progressive lumbosacral radicular symptoms. Magnetic resonance imaging and fluorodeoxyglucose-positron emission tomography, but not cerebrospinal fluid, are helpful in achieving early diagnosis. Treatment responses seem favorable. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Original Article Source Type: research

A Retrospective Analysis of the Safety Profile of Intravenous Immunoglobulin in 1176 Patients Receiving Home Infusion Therapy
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 (6.6%) moderate, and 34 (2.9%) severe. Thirty-seven (3.1%) patients were hospitalized because of ARs; of these, headache was most common (51.4%). Mean number of ARs per patient incre...
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Original Article Source Type: research

40th ANNUAL CARRELL-KRUSEN NEUROMUSCULAR SYMPOSIUM, Texas Scottish Rite Hospital for Children, Dallas, Texas, February 22–23, 2018: Meeting Convenor Susan T. Iannaccone, MD, FAAN
The Annual Carrell-Krusen Neuromuscular Symposium is a unique conference attended by more than 200 each year at the Texas Scottish Rite Hospital for Children. Its name honors Dr. Brandon Carrell who retired as physician-in-chief at Texas Scottish Rite Hospital in 1978 and Dr. Ed Krusen who organized the first Muscular Dystrophy Association clinic in Dallas. This Symposium began in 1978 under the leadership of Dr. Jay Cook at a Muscular Dystrophy Clinic Directors' meeting and is now jointly sponsored by the hospital, the Muscular Dystrophy Association, Childrens' Medical Center of Dallas, and the University of Texas Southwe...
Source: Journal of Clinical Neuromuscular Disease - March 1, 2018 Category: Neurology Tags: Abstracts: PDF Only Source Type: research

Coexistence of Ankylosing Spondylitis and Myotonic Dystrophy: Camptocormia or Thoracic Ankylosis
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 22, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Miller-Fisher Syndrome With Botulism Toxin Ingestion: The Ultimate Descending Paralysis
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 22, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Case of Charcot–Marie–Tooth Type 2C Due to a TRPV4 Gene Mutation With Isolated Sudomotor Autonomic Dysfunction
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 22, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Hypoglycemia in a Patient With Facioscapulohumeral Muscular Dystrophy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 22, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Asymmetric Muscle Involvement in an Indian Family With Central Core Myopathy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 22, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Peripheral Vasculitic Neuropathy Associated With Minocycline Use
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...
Source: Journal of Clinical Neuromuscular Disease - February 22, 2018 Category: Neurology Tags: Short Report Source Type: research