Journal of Clinical Neuromuscular Disease 
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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.Clinical and Laboratory Profiles of Idiopathic Small Fiber Neuropathy in Children: Case Series
In conclusion, a high proportion of patients with idiopathic SFN in our cohort had a positive IgM TS-HDS antibody. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2017 Category: Neurology Tags: Case Review Source Type: research
Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S
Abstract: Limb-girdle muscular dystrophy 2S (LGMD2S) is an autosomal recessive condition due to mutations in the TRAPPC11 gene. It is recently described with only 9 prior reported individuals. In addition to the muscular dystrophy, some affected individuals have small head size, global developmental delay, seizures, cataracts, and liver problems. Siblings with an uncharacterized LGMD were assessed; whole-exome screening revealed compound heterozygous mutations in the TRAPPC11 gene. Their presentation helps confirm the emerging phenotype for LGMD2S. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2017 Category: Neurology Tags: Case Review Source Type: research
Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy
Conclusions: The characteristic pattern of upper and lower muscle weakness associated with GNEM and the resulting functional limitations can be reliably measured using these clinical outcome assessments of muscle strength and function. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2017 Category: Neurology Tags: Original Article Source Type: research
Type 1 Diabetes, Celiac Disease, and Neuropathy—A Nationwide Cohort Study
Conclusions: CD does not seem to influence the risk of neuropathy in individuals with T1D, although a small excess risk cannot be ruled out. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2017 Category: Neurology Tags: Original Article Source Type: research
Less is More in Diabetic Neuropathy Diagnosis: Comparison of Quantitative Sudomotor Axon Reflex and Skin Biopsy
Conclusions: ENFD has a high diagnostic yield in diabetic DSPN and DSPN-L. Including QSART data adds little to the sensitivity of EFND in DSPN-S. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2017 Category: Neurology Tags: Original Article Source Type: research
Insulin Neuritis and Effect of Pregabalin
Conclusions and Relevance: IN is a self-limited condition. Early recognition can lead to institution of appropriate therapy, which includes pain control and withholding insulin. Most cases do not require any work-up and resolve spontaneously. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 24, 2017 Category: Neurology Tags: Original Article Source Type: research
What's in the Literature?
Abstract: In this edition, we provide a detailed summary of an informative book, “GBS100: Celebrating a Century of Progress in Guillain–Barré Syndrome” developed by the Peripheral Nerve Society to honor the centenary of the original paper on Guillain–Barré Syndrome. We also review various studies in myasthenia gravis including: management with rituximab; the efficacy of early fast-acting treatment with corticosteroids; and various dosing strategies for tacrolimus. Finally, we review new studies including: the potential pathogenesis, risk factors, and functional decline of patients with inclusion body myositis; Mx...
Source: Journal of Clinical Neuromuscular Disease - May 24, 2017 Category: Neurology Tags: Literature Review Source Type: research
Spinocerebellar Ataxia Type 2 With Onset at Toddlerhood
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 24, 2017 Category: Neurology Tags: Letter to the Editor Source Type: research
A Man With Distal Asymmetric Leg Weakness
Educational objectives: To discuss a case of adult-onset asymmetric distal leg weakness in a patient who presented with weakness and atrophy of the posterior compartment of the left leg.
Key Questions: 1. What is the differential diagnosis of asymmetric distal leg weakness?
2. How would a clinician approach diagnostic testing for such a patient?
3. What is the final diagnosis for this patient?
4. How to treat this patient? (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 24, 2017 Category: Neurology Tags: Case Review Source Type: research
Acute Demyelinating Polyneuropathy as Presentation of Hereditary Neuropathy With Liability to Pressure Palsies in a Patient Who Exercised Regularly in the Army
We report a 19-year-old Army recruit who exercised regularly for 9 months and presented with 2 weeks of numbness, tingling, and weakness in both upper and lower extremities, starting 2 weeks after influenza vaccination and 1 day after vigorous exercise. Based on acute onset, clinical examination and electrophysiological findings, Guillain–Barre syndrome was diagnosed, and intravenous immunoglobulin was administered with minimal improvement. The presence of high foot arches and scapular winging raised suspicion of HNPP, confirmed by genetic testing. The role of the influenza vaccine in the development of symptoms is discu...
Source: Journal of Clinical Neuromuscular Disease - May 24, 2017 Category: Neurology Tags: Case Review Source Type: research
Immune Myopathy With Perimysial Pathology Associated With Interstitial Lung Disease and Anti-EJ Antibodies
Conclusions: Our case adds to the growing spectrum of inflammatory myopathies and highlights the importance of performing a comprehensive, multisystem workup. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 24, 2017 Category: Neurology Tags: Case Review Source Type: research
Concurrent Paraspinous Myopathy and Myasthenia Gravis
Abstract: Paraspinous myopathy is a rare neuromuscular disorder characterized by selective involvement of the cervical, thoracic, or lumbar muscles. Leading clinical features include a bent spine or dropped head (antecollis). In myasthenia gravis (MG), patients may have camptocormia secondary to neuromuscular junction dysfunction of the paraspinal muscles, and this condition usually responds to acetylcholinesterase inhibitors or immunosuppressive treatments. However, concomitant MG and paraspinous myopathy with histologic and electrophysiologic evidence of myopathic changes of the paraspinal muscles has only been reported ...
Source: Journal of Clinical Neuromuscular Disease - May 24, 2017 Category: Neurology Tags: Original Article Source Type: research
Hyponatremia in Guillain–Barré Syndrome
Objectives: To evaluate incidence, risk factors, and in-hospital outcomes associated with hyponatremia in patients hospitalized for Guillain–Barré Syndrome (GBS).
Methods: We identified adult patients with GBS in the Nationwide Inpatient Sample (2002–2011). Univariate and multivariable analyses were used.
Results: Among 54,778 patients hospitalized for GBS, the incidence of hyponatremia was 11.8% (compared with 4.0% in non-GBS patients) and increased from 6.9% in 2002 to 13.5% in 2011 (P (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 24, 2017 Category: Neurology Tags: Original Article Source Type: research
Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy
Conclusions: Cardiac anomalies identified during the follow-up of patients with type 1 facioscapulohumeral dystrophy are mainly minor anomalies, dominated by the iRBBB. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 24, 2017 Category: Neurology Tags: Original Article Source Type: research
39th ANNUAL CARRELL-KRUSEN NEUROMUSCULAR SYMPOSIUM, Texas Scottish Rite Hospital for Children, Dallas, Texas, February 23-24, 2017: 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 as 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 - February 23, 2017 Category: Neurology Tags: Abstracts: PDF Only Source Type: research
