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.

Refractory Ventricular Arrhythmia and Dilated Cardiomyopathy as the Initial Presentation of Myotonic Dystrophy Type 2
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Letters to the Editor Source Type: research

Facial Onset Sensory and Motor Neuronopathy-Like Syndrome: A Case Report
Conclusions: This case demonstrates a unique presentation of FOSMN that we classify as FOSMN-like syndrome. Clinicians must maintain a high index of suspicion when a patient presents with clinical features characteristic of FOSMN syndrome without progression of symptoms distal to the craniofacial region because it may represent a FOSMN-like syndrome. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Short Report Source Type: research

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review
This study reports a case of BAG3-related myopathy without cardiac involvement and further confirmed the wide phenotypic spectrum of BAG3-related myopathy. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Case Review Source Type: research

What Is in the Myopathy Literature?
We cover intensive care unit–acquired neuromuscular disorders associated with coronavirus disease 2019. Outcomes may be worse than expected in these patients, and there is some evidence that coronavirus disease 2019 causes myopathy directly. Corticosteroid regimens in Duchenne muscular dystrophy are addressed including outcomes in pulmonary and cardiac function. A recent article notes a continued diagnostic delay in Duchenne muscular dystrophy. An interesting report of a Canary Islands cohort of patients with oculopharyngeal muscular dystrophy is discussed. Features and clinical pearls related to a series of patients wit...
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Review Article Source Type: research

Immune-Mediated Small Fiber Neuropathy With Trisulfated Heparin Disaccharide, Fibroblast Growth Factor Receptor 3, or Plexin D1 Antibodies: Presentation and Treatment With Intravenous Immunoglobulin
Conclusions: TS-HDS, FGFR-3, and Plexin D1 antibodies are present in a high proportion of cryptogenic SFN cases with more facial involvement, and greater disease severity is associated with higher antibody titers. They are often misdiagnosed but may respond subjectively and objectively to IVIG. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Original Article Source Type: research

Long-Term Remission With Low-Dose Rituximab in Myasthenia Gravis: A Retrospective Study
Conclusions: Low-dose RTX infusions were sufficient to achieve undetectable CD19/20 cell counts and sustained clinical remission. In low and middle-income countries, the impact of low-dose RTX therapy represents a paradigm shift in decision-making for long-term treatment. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Original Article Source Type: research

Patient-Reported Symptom Burden of Charcot–Marie–Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study
Conclusions: Patient-reported burden of CMT1A is high, influenced by difficulties in using limbs, fatigue, pain, and impaired quality of life. Burden severity appears to differ across the population, possibly driven by differences in rehabilitative and prescription-based interventions, and country-specific health care variability. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Original Article Source Type: research

Diagnostic Outcome of Genetic Testing for Neuromuscular Disorders in a Tertiary Center
We examined the results of single-gene sequencing/repeat analysis, panels, and whole-genome sequencing (WES) of 514 tests of 393 patients. All patients were suspected of a neuromuscular disorder and the samples were either WBC or muscle tissue. 28.60% (n.147) of the tests were positive while 23.74% (n.122) were VUS. In single-gene sequencing/repeat analysis, 43.08% were positive, in panels, 23.17% were positive, while 30.00% were positive in WES. Our results showed consistency with current studies and improvement of the utility of genetic testing. Although some obstacles are identified, providing statistical data can suppo...
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Original Article Source Type: research

COVID-19 in a Patient With Duchenne Muscular Dystrophy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2022 Category: Neurology Tags: Letters to the Editor Source Type: research

Pfizer mRNA COVID-19 Vaccination and Acute Inflammatory Demyelinating Polyneuropathy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2022 Category: Neurology Tags: Letters to the Editor Source Type: research

Parsonage Turner Syndrome Following Vaccination With mRNA-1273 SARS-CoV-2 Vaccine
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2022 Category: Neurology Tags: Letters to the Editor Source Type: research

Parsonage–Turner Syndrome: Fascicular Involvement and Focal Constriction
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2022 Category: Neurology Tags: Image Source Type: research

Rituximab Responsive Relapsing–Remitting IgG4 Anticontactin 1 Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated With Membranous Nephropathy: A Case Description and Brief Review
Nodal/paranodal IgG4-related chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) rarely involves anticontactin (CNTN1) subtype and exceptionally complicates with nephrotic syndrome. A 65-year-old man developed weakness, facial palsy, and balance impairment; after spontaneous recovery, he severely relapsed 1 month later. Electroneuromyography confirmed CIDP. Proteinorachy (462 mg/dL; N (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2022 Category: Neurology Tags: Short Report Source Type: research

Academic and Employment Status in Patients With Generalized Myasthenia Gravis Treated With Eculizumab: A Case Series
Conclusions: These results suggest that treatment with eculizumab may help maintain education/employment activity in patients with refractory generalized MG. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 26, 2022 Category: Neurology Tags: Short Report Source Type: research

Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2
We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual–auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She carries a homozygous mutation in the SLC52A2 gene, c.1016T>C (p.Leu339Pro). Her testing demonstrates a non–length-dependent axonal sensorimotor polyneuropathy affecting predominantly the upper extremities with active denervation of the distal muscles of both arms. It is important to highlight these findings because most genetic neuropathies have a length-dependent pattern o...
Source: Journal of Clinical Neuromuscular Disease - May 26, 2022 Category: Neurology Tags: Case Review Source Type: research