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    Neuromuscular Diseases

    Explore the latest in neuromuscular diseases, including myasthenia gravis, muscular dystrophies, peripheral and other neuropathies, and more.

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    • All Patients With a Cerebral Palsy Diagnosis Merit Genomic Sequencing
      JAMA Pediatrics
      Opinion
      March 6, 2023
      Neurogenetics Neurology Pediatrics Genetics and Genomics
      Full Text | pdf link PDF
    • Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis
      JAMA Pediatrics
      Research
      March 6, 2023

      This study attempts to evaluate if the diagnostic yield of exome or genome sequencing in cerebral palsy is similar to that of other neurodevelopmental disorders.

      Genetics and Genomics Neurogenetics Pediatrics Neurology
      Full Text | pdf link PDF
    • Development of a Bedside Tool to Predict the Diagnosis of Cerebral Palsy in Term-Born Neonates
      JAMA Pediatrics
      Research
      February 1, 2023

      This case-control study evaluates a cerebral palsy prognostic tool that can be applied to all term neonates to identify those at increased risk of developing cerebral palsy.

      Neonatology Pediatrics Neurology
      Full Text | pdf link PDF
    • New Screening Tool for Term-Born Infants Enables Update to the Clinical Practice Guideline for Early Diagnosis of Cerebral Palsy
      JAMA Pediatrics
      Opinion
      February 1, 2023
      Neonatology Pediatrics Neurology
      Full Text | pdf link PDF
    • Progressive Camptocormia With Head Drop and Dysphagia
      JAMA Neurology
      Case Report
      February 1, 2023

      A 72-year-old man had mild proximal weakness that developed into progressive camptocormia, head drop, numbness, and significant muscle wasting. What is your diagnosis?

      Hematology Neurology Clinical Challenge Swallowing and Dysphagia
      Full Text | pdf link PDF | CME & MOC is active quiz
    • Cost-effectiveness of Novel Macrophage-Regulating Treatment for Wound Healing in Patients With Diabetic Foot Ulcers From the Taiwan Health Care Sector Perspective
      JAMA Network Open
      Research
      January 12, 2023

      This economic evaluation assesses the cost-effectiveness of an ON101 cream added on to general wound care vs general wound care alone for diabetic foot ulcers (DFUs) from the Taiwan health care sector perspective.

      Diabetes and Endocrinology Drug Development Health Care Economics, Insurance, Payment Diabetes Wound Care, Infection, Healing
      Full Text | pdf link PDF open access
    • Slowly Progressive Cerebellar Ataxia in a 55-Year-Old Female Patient
      JAMA Neurology
      Case Report
      January 1, 2023

      A 55-year-old female patient with a history of hypercholesterolemia and anxiety presented for imbalance, fear of falling, and progressive disability. Examination revealed gaze-evoked horizontal nystagmus, ataxic dysarthria, sensory neuronopathy, and cerebellar atrophy. What is your diagnosis?

      Neurogenetics Neurology Clinical Challenge
      Full Text | pdf link PDF | CME & MOC is active quiz
    • What Is Amyotrophic Lateral Sclerosis?
      JAMA
      Patient Information
      December 27, 2022

      This JAMA Patient Page describes the neurological disorder amyotrophic lateral sclerosis and its symptoms, risk factors, diagnosis, and treatment options.

      Amyotrophic Lateral Sclerosis Neurology Patient Information JAMA Patient Information
      Full Text | pdf link PDF free
    • Types and Concentrations of Blood-Based Biomarkers in Adults With Peripheral Neuropathies: A Systematic Review and Meta-analysis
      JAMA Network Open
      Research
      December 27, 2022

      This systematic review and meta-analysis assesses blood-based biomarker concentrations associated with nerve involvement in patients with peripheral neuropathy compared with control participants.

      Neurology Neuropathy Pathology and Laboratory Medicine
      Full Text | pdf link PDF open access
    • Abdominal Pain in a 15-Year-Old Adolescent Girl
      JAMA
      Case Report
      December 20, 2022

      A 15-year-old adolescent girl taking an oral contraceptive had 3 days of pain in a 1-cm area of the lower left abdominal quadrant. She had no nausea/vomiting, diarrhea, hematochezia, bloating, or anorexia; no precipitating factors for the pain; and no history of pregnancy, abdominal surgery, or abdominal trauma. Results from laboratory tests, endoscopy, and abdominal computed tomography were normal. What is the diagnosis and what would you do next?

      Emergency Medicine Neuropathy Surgery Clinical Challenge Gastroenterology and Hepatology
      Full Text | pdf link PDF | CME & MOC is active quiz
    • Highlights From Infectious Disease Week 2022—COVID-19, HIV, Monkeypox, and Polio
      JAMA
      News
      December 6, 2022

      This Medical News article explores timely topics discussed at the annual IDWeek conference.

      Infectious Diseases Coronavirus (COVID-19) Monkeypox Neurology CNS Infections
      Full Text | pdf link PDF free has multimedia
    • Racial and Ethnic Equity in Neuromuscular Care—Time for Our Action to Live Up to Potential
      JAMA Neurology
      Opinion
      December 1, 2022

      This Viewpoint discusses the need to improve the quality of care in neuromuscular disease for all individuals, no matter their race and ethnicity.

      Equity, Diversity, and Inclusion Neurology Ethics Health Care Quality
      Full Text | pdf link PDF
    • Amyotrophic Lateral Sclerosis Clinical Trials and Interpretation of Functional End Points and Fluid Biomarkers: A Review
      JAMA Neurology
      Review
      December 1, 2022

      This narrative review discusses aspects of clinical trial design that may be important in discerning efficacy of treatments for amyotrophic lateral sclerosis (ALS).

      Amyotrophic Lateral Sclerosis Neurology
      Full Text | pdf link PDF | CME & MOC is active quiz
    • New Funding for Research Into Rare Diseases Treatments
      JAMA
      News
      November 15, 2022
      Neurology Drug Development Regulatory Agencies Amyotrophic Lateral Sclerosis
      Full Text | pdf link PDF
    • Noninvasive Neuromodulation May Help Improve Function in Cerebral Palsy
      JAMA
      News
      November 8, 2022
      Neurology Pediatrics Pain Medicine
      Full Text | pdf link PDF
    • Efficacy of a Hip Brace for Hip Displacement in Children With Cerebral Palsy: A Randomized Clinical Trial
      JAMA Network Open
      Research
      November 4, 2022

      This randomized clinical trial investigates the efficacy of a novel hip brace in preventing progressive hip displacement in children with nonambulatory cerebral palsy.

      Physical Medicine and Rehabilitation Medical Devices and Equipment Orthopedics Neurology Pediatrics
      Full Text | pdf link PDF open access
    • Association of Taxane Type With Patient-Reported Chemotherapy-Induced Peripheral Neuropathy Among Patients With Breast Cancer
      JAMA Network Open
      Research
      November 2, 2022

      This cohort study compares the symptom spectrum of patient-reported chemotherapy-induced peripheral neuropathy associated with nab-paclitaxel, paclitaxel, and docetaxel treatments among patients with breast cancer.

      Oncology Women's Health Pharmacy and Clinical Pharmacology Breast Cancer Clinical Pharmacy and Pharmacology
      Full Text | pdf link PDF open access
    • Seeing Ellen and the Platinum Rule
      JAMA Neurology
      Opinion
      November 1, 2022

      This essay discusses basing care decisions on what the patient wants and not presuming to know what is in the patient’s best interest based on what we would want in their circumstances.

      Humanities Narrative Medicine On The Brain Neurology
      Full Text | pdf link PDF
    • Efficacy and Safety of Rituximab for New-Onset Generalized Myasthenia Gravis: The RINOMAX Randomized Clinical Trial
      JAMA Neurology
      Research
      November 1, 2022

      This randomized clinical trial investigates the efficacy and safety of rituximab compared vs placebo as an add-on with standard of care for myasthenia gravis.

      Myasthenia Gravis Neurology
      Full Text | pdf link PDF open access
    • Rituximab in Newly Diagnosed Generalized Myasthenia Gravis: A New Treatment Paradigm?
      JAMA Neurology
      Opinion
      November 1, 2022
      Myasthenia Gravis Neurology
      Full Text | pdf link PDF
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