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.

What's in the Literature?
Abstract: In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with...
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Literature Review Source Type: research

Unusual Concurrence of HTLV-I Infection and Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes Syndrome
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Letters to the Editor Source Type: research

COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Letters to the Editor Source Type: research

A Case of Idiopathic Femoral Neuropathy With Subsequent Quadriceps Atrophy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Letters to the Editor Source Type: research

Intravenous Immunoglobulin in Treatment of Hereditary Neuropathy With Liability to Pressure Palsy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Letters to the Editor Source Type: research

Utility of Neurological Imaging in Sensory Variant of Chronic Inflammatory Demyelinating Polyneuropathy: A Case Report
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Image Source Type: research

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient
Abstract: Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein which serves as a key component of stress granules. This protein also regulates splicing and translation of mRNA. Our patient developed progressive weakness in his hands and feet during his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy. Follow-up genetic testing revealed a p.Gl...
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Case Review Source Type: research

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop
We report a 17-month-old boy with dropped head and limb–girdle weakness, who had no ptosis or ophthalmoplegia at presentation. We performed whole exome sequencing, which revealed a homozygous missense variant in the AGRN gene c.5023G>A, p.Gly1675Ser in the LG2 domain, which is predicted to be likely disease causing by in silico tools. Agrin is known to play a critical role in the development and maintenance of the neuromuscular junction. Agrin-related CMS is one of the rarest subtypes. Of note, our patient is the first described patient with agrin-related CMS with dropped head phenotype. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Case Review Source Type: research

Outcome Measures in Myasthenia Gravis: Incorporation Into Clinical Practice
This article reviews the suitability of 5 assessment instruments for incorporation into clinical practice, which should be driven by their ability to contribute to improved patient outcomes, and to be implemented within practice personnel and resource constraints. It is recommended that assessments based on both physician-evaluated and patient-reported outcomes be selected, to adequately evaluate both point-in-time symptom load and functional impact of MG symptoms over time. Provider resource allocation and reimbursement issues may be the most significant roadblocks to successful ongoing use of these tools; to that end, th...
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Review Article Source Type: research

A Case of Asymptomatic Inclusion Body Myositis
Conclusions: Asymptomatic hyperCKemia should be investigated and followed closely for definitive diagnosis and possible treatable causes. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Short Report Source Type: research

Diagnostic Criteria for Small Fiber Neuropathy
Conclusions: The diagnostic yield for SFN increases by combining clinical features with various testing modalities. In symptomatic patients, we propose the following diagnostic criteria for diagnosis of SFN: Definite SFN—abnormal neurological examination and both QSART and QST; Probable SFN—abnormal neurological examination, and either QSART or QST; Possible SFN—abnormal neurological exam, QSART, or QST. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Original Article Source Type: research

Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies
Conclusions: The presence of polyneuropathy, median terminal motor latency prolongation, and multiple compressive neuropathies are the most common findings associated with HNPP. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 23, 2017 Category: Neurology Tags: Original Article Source Type: research

What's in the Literature?
Abstract: In this edition, we focus on neuromuscular junction disorders and myopathy. The newly published international consensus guidelines for the management of myasthenia gravis are reviewed. In addition, various emerging treatment options for myasthenia, including the use of methotrexate, rituximab, subcutaneous immunoglobulin, and thymectomy, are discussed. Recent studies examining the clinical and genetic features of several forms of congenital myasthenia gravis are also highlighted. The clinical features and treatment of late-onset Pompe disease are reviewed, as are studies in facioscapulohumeral dystrophy, idiopath...
Source: Journal of Clinical Neuromuscular Disease - November 22, 2016 Category: Neurology Tags: Literature Review Source Type: research

Seronegative Bulbar Myasthenia Gravis Associated With Voltage-Gated Potassium Channel Antibodies
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 22, 2016 Category: Neurology Tags: Letters to the Editor Source Type: research

Sensory Ganglionopathy Associated With Sjögren Syndrome
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 22, 2016 Category: Neurology Tags: Letters to the Editor Source Type: research