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.

Marfanoid Habitus in an Adolescent With Hereditary Neuropathy With Liability to Pressure Palsies: A Novel Association?
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Difficult Diagnosis After Arrest in Patient With Multiple Autoimmune Diseases
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

An Un-nerving Case of Weakness: A Rare Rheumatic Disease Presents as ALS
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Proximal Nerve Root Involvement in immunoglobulin M Anti–Myelin-Associated Glycoprotein Neuropathy Presenting as Cauda Equina Syndrome
We describe the case of a 56-year-old man diagnosed with immunoglobulin M anti-MAG neuropathy in the setting of Waldenström macroglobulinemia, which developed acute neurological worsening presenting as cauda equina syndrome. Lumbosacral magnetic resonance imaging revealed enlarged nerve roots with diffuse heterogeneous gadolinium enhancement. Treatment with steroids resulted in substantial clinical improvement. Increased recognition of atypical presentations may lead to improved characterization of anti-MAG neuropathy as a more widespread disease. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Short Report Source Type: research

Sleep and Breathing After Nusinersen Therapy in a Child With Spinal Muscular Atrophy
Conclusions: The improvement in OSA supports the role of nusinersen in sleep-related upper respiratory muscle function in SMA type 3. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Short Report Source Type: research

Atypical Ulnar Neuropathy Presenting With an Atypical Wartenberg's Sign and Atypical Ultrasound
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Image Source Type: research

Polyneuropathy Reveals Origins of Decade-long Gastrointestinal Symptoms in a Patient With Undiagnosed Mitochondrial Neurogastrointestinal Encephalopathy Caused by a Novel Mutation
We present herein the clinical, neuroimaging, electrodiagnostic, and molecular findings of a patient with MNGIE caused by a novel homozygous missense mutation (C1175T> G) of the TYMP gene. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Case Review Source Type: research

GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy
We report a case of 2 sisters in their 20s with genetically confirmed UDP-N-acetylglucoasmine 2-epimerase/N-acetylmannosamine kinase myopathy along with muscle biopsy findings. Both patients described slowly progressive signs of distal-predominant weakness since adolescence that had been dismissed as “clumsiness.” Exam and electrodiagnostic testing suggested a predominately distal myopathy. Muscle biopsy of the left tibialis anterior revealed rimmed vacuoles and, interestingly, also had characteristic features of a myofibrillar myopathy. Genetic testing confirmed a diagnosis of autosomal recessive GNE myopathy in both ...
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Case Review Source Type: research

An Appraisal of Electrodiagnostic Studies in Stiff Person Syndrome
A literature review was performed on the use of electrodiagnostic (EDX) tests including nerve conduction study, electromyography, exteroceptive reflex, blink reflex, and late response in the evaluation of patients with stiff person syndrome (SPS). A web survey was conducted to report the extent of EDX testing usage in the evaluation of SPS among laboratories accredited by the American Academy of Neuromuscular and Electrodiagnostic Medicine. Coactivation of selected agonist and antagonist muscles was performed in 5 healthy subjects to determine its specificity for SPS. Observation of continuous motor unit activity on electr...
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Review Article Source Type: research

What is in the Myopathy Literature?
This update begins with muscle manifestations of coronavirus 2019. They may include myalgias and elevations in serum creatine kinase. It is unknown whether there is direct muscle invasion and how often the critically ill have muscle sequelae. Regarding autoimmune myopathies, a retrospective study of statin-induced necrotizing myopathy is covered. A relatively large proportion of patients had normal strength at presentation. Examples of dermatomyositis associated with immune checkpoint inhibitors are provided including one with cytokine storm. A report of juvenile dermatomyositis with severe abdominal complications is notew...
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Review Article Source Type: research

Development of a Patient-Reported Outcome Questionnaire to Evaluate Primary Mitochondrial Myopathy Symptoms: The Primary Mitochondrial Myopathy Symptom Assessment
Conclusions: The Primary Mitochondrial Myopathy Symptom Assessment is a content-valid PRO questionnaire with qualitative and quantitative support as a valuable tool to evaluate and monitor the day-to-day experience of PMM symptoms from the patient perspective. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Original Article Source Type: research

Eculizumab in Acute Motor Axonal Neuropathy: An Ethical Application of an Off-Label Indication
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

New Duchenne Muscular Dystrophy Mutation
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Myasthenic Syndrome Caused by Hydroxychloroquine Used for COVID-19 Prophylaxis
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Electromyography Safety: A Posterolateral Approach During COVID-19 Pandemic
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research