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.

Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations
We report a Spanish case, a carrier of one known hetero-allelic missense mutation and one newly identified MUSK gene variant. Our patient presented with congenital onset ophthalmoplegia and palpebral ptosis associated with limb–girdle weakness and exercise intolerance without prominent fatigability, developed during his twenties. He was misdiagnosed as mitochondrial myopathy because of paraclinic and histologic findings, but detailed clinical examination prompted us to reassess him with repetitive stimulation technique, demonstrating decremental response and suggesting myasthenic syndrome. A genetic study confirmed the c...
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Case Review Source Type: research

The Role of Radiation Therapy and Botulinum Toxin Injections in the Management of Sialorrhea in Patients With Amyotrophic Lateral Sclerosis: A Systematic Review
Conclusions: Both radiation and botulinum toxin are effective treatments for sialorrhea in patients with amyotrophic lateral sclerosis and should be considered when medical management fails. Radiation may offer longer duration of symptom improvement with fewer complications. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Review Article Source Type: research

What's in the Neuromuscular Junction Literature?
Four retrospective studies from the United States, Europe, and Asia address outcomes in juvenile myasthenia gravis. Common features include earlier onset with ocular myasthenia gravis (MG) and generally good outcomes overall. Patients who were seronegative, had equivocal acetylcholine receptor (AChR) antibodies, or had only clustered AChR antibodies had better outcomes. An article highlighting the utility of median nerve slow-repetitive stimulation is reviewed and another showing the high sensitivity of repetitive nerve stimulation in myasthenic crisis is covered. Two articles address the thymus and thymectomy in non-AChR ...
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Review Article Source Type: research

Efficacy of Electrical Stimulation on Nerve Fiber Growth in Small Fiber Neuropathy
Conclusions: Despite the success of previous animal studies, no meaningful nerve growth and regeneration in SFN was demonstrated with ENS therapy in this study. Studies of larger subject larger populations with longer duration of ENS treatment are warranted to confirm our findings. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Original Article Source Type: research

42nd ANNUAL CARRELL-KRUSEN NEUROMUSCULAR SYMPOSIUM, Dallas, Texas, February 20–21, 2020: Meeting Convenor: Susan T. Iannaccone, MD, FAAN
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 28, 2020 Category: Neurology Tags: Abstracts Source Type: research

Pharyngeal-Cervico-Brachial/Miller Fisher Overlap Syndrome With Infliximab Exposure
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 28, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Hereditary Transthyretin Amyloidosis: Clinical Presentation and Management Updates
Hereditary transthyretin amyloidosis, once a rare progressive neuropathy and/or cardiomyopathy, is now recognized with increasing worldwide frequency, various phenotypes, and over 130 gene mutations identified to date. This inherited disorder develops as a result of mutated transthyretin amyloid aggregation and systematic deposition throughout the body. With increasing knowledge about the pathophysiology of this disease, new disease-modifying therapies are being developed. In addition to slowing progression, these new agents were found to improve quality of life and reduce the severity of neuropathic symptoms. Two new gene...
Source: Journal of Clinical Neuromuscular Disease - February 28, 2020 Category: Neurology Tags: Review Article Source Type: research

Evaluation and Management of Dysphagia in Amyotrophic Lateral Sclerosis: A Survey of Speech-Language Pathologists' Clinical Practice
Conclusions: There is currently no uniform approach as to the indication, timing, and specific methods to use in the evaluation of dysphagia in ALS patients among SLPs. There is need for further research to assist in the development of definitive guideline recommendations for this population. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 28, 2020 Category: Neurology Tags: Original Article Source Type: research

An Open-Label, Prospective Study Evaluating the Clinical and Immunological Effects of Higher Dose Granulocyte Colony–Stimulating Factor in ALS
Conclusions: Higher-dose G-CSF was well tolerated in this cohort with no apparent effect on disease progression up to 1 year. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 28, 2020 Category: Neurology Tags: Original Article Source Type: research

When Thymomatous Myasthenia Gravis Is Not Grave
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Fulminant Guillain–Barré Syndrome Misdiagnosed as Spinal Cord Contusion After Motor Vehicle Collision
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Guillain–Barré Syndrome Variant With Facial Diplegia and Paresthesias Presenting With Bulbar Weakness
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Dropped Head 30 Years After Mantle Field Radiation for Hodgkin Lymphoma: A Case Report
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Lambert–Eaton Myasthenic Syndrome Plus
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

CSF Protein Level and Short-Term Prognosis in Guillain–Barré Syndrome
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 20, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research