Ultrasound in Multifocal Motor Neuropathy: Clinical and Electrophysiological Correlations
Conclusions: Peripheral nerve US shows promise as a diagnostic tool in MMN and may be helpful to distinguish MMN from motor neuron disease. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2019 Category: Neurology Tags: Original Article Source Type: research

41st ANNUAL CARRELL-KRUSEN NEUROMUSCULAR SYMPOSIUM, Dallas, Texas February 21–22, 2019
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 24, 2019 Category: Neurology Tags: Abstracts Source Type: research

41st ANNUAL CARRELL-KRUSEN NEUROMUSCULAR SYMPOSIUM, Dallas, Texas February 21–22, 2019: Meeting Convenor: Susan T. Iannaccone, MD, FAAN
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Abstracts Source Type: research

Muscle Hypertrophy in a Child With Progressive Weakness–Thinking Beyond Muscular Dystrophy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Joint Hyperlaxity, Proximal Contractures, and Facial Weakness in Child With Spinal Muscular Atrophy
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Influence of Body Mass Index and Prealbumin Levels on Lung Function in Patients With Spinal Muscular Atrophy: A Pilot Study
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

Thenar Hypertrophy and Electrical Myotonia in Pompe Disease
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Letters to the Editor Source Type: research

What Is in the Myopathy Literature?
We review the development of exon 51 skipping therapy with eteplirsen for Duchenne muscular dystrophy, including the recent report of long-term, sustained dystrophin production. Studies of the late-life health profile of patients with Duchenne muscular dystrophy, early detection of left ventricular systolic dysfunction, and caregiver burden are also covered. A study of skeletal muscle magnetic resonance imaging in dysferlinopathies provides an extensive, detailed map of the involved muscles and consistency across phenotypes. Regarding the category of autoimmune myopathies, we discuss an article on the clinical and laborato...
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Review Article Source Type: research

Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis
In this report, we describe a man with late-onset cardiac amyloidosis due to a transthyretin Thr60Ala mutation who was treated with an investigational RNAi therapeutic, revusiran, which targets hepatic transthyretin production. Sixteen months into treatment, he developed bilateral lower-extremity weakness and numbness, worsening balance, difficulty manipulating objects with his hands, and finger numbness. Nerve conduction studies were consistent with multifocal demyelinating neuropathy. Intravenous immunoglobulin therapy improved sensation in his hands and feet, and improved hand dexterity. A sural nerve biopsy demonstrate...
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Case Review Source Type: research

Amifampridine Phosphate (Firdapse) Is Effective in a Confirmatory Phase 3 Clinical Trial in LEMS
Conclusions: This phase 3 randomized, double-blind, placebo-controlled withdrawal trial in adults with LEMS provided class I evidence of efficacy of amifampridine phosphate as symptomatic treatment in LEMS. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Original Article Source Type: research

Prevalence of Axonal Sensory Neuropathy With IgM Binding to Trisulfated Heparin Disaccharide in Patients With Fibromyalgia
Conclusions: This study further supports the hypothesis that a subgroup of patients with FM has SFN. We suggest a correlation between the presence of NLDSFN and TS-HDS antibodies. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - February 21, 2019 Category: Neurology Tags: Original Article Source Type: research

Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction: A 3-Year Follow-up of a Child Patient
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Immune Checkpoint Inhibitors and Myasthenic Syndromes: A Case Report of a Metastatic Renal Cell Carcinoma Patient Treated With Nivolumab
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Letters to the Editor Source Type: research

Toxic Myopathy due to Antidopaminergic Medication Without Neuroleptic Malignant Syndrome
We report a 29-year-old man with history of obsessive compulsive disorder and Tourette syndrome who presented with 2 months of worsening dyspnea 3 weeks after starting ziprasidone 40 mg daily that required mechanical ventilation. A year before, after an increased risperidone dose from 0.5 to 1 mg daily, he had developed proximal muscle weakness that spontaneously improved 2 months after discontinuation of risperidone. On this admission, his creatine kinase (CK) was 3318 units/L, and ziprasidone was discontinued. He fully recovered 2 months after discontinuation of ziprasidone, and his CK was 62 units/L. Genetic testing for...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Short Report Source Type: research

Current Cardiac Imaging Approaches in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular condition caused by mutations in the dystrophin gene leading to skeletal muscle weakness and dilated cardiomyopathy. The prevalence of DMD-related cardiomyopathy increases with age and is almost universal by the third decade of life. Myocardial fibrosis and progressive left ventricular dysfunction lead to the development of heart failure and premature death. With modern advances in medical and surgical management for patients with DMD increasing their life expectancy, cardiac dysfunction represents an increasing cause of morbidity and mortality in these patient...
Source: Journal of Clinical Neuromuscular Disease - December 1, 2018 Category: Neurology Tags: Review Article Source Type: research