Journal of Clinical Neuromuscular Disease最新文献

Objectives: To report demyelinating neuropathies after COVID-19 vaccination.

Methods: Case report.

Results: Four cases of demyelinating neuropathies after COVID-19 vaccination were identified at the University of Nebraska Medical Center from May to September 2021. Three were male and 1 was a female, ages 26-64 years. Three cases received Pfizer-BioNTech vaccine and 1 Johnson & Johnson. Symptom onset ranged from 2 to 21 days after vaccination. Two cases had progressive limb weakness, 3 had facial diplegia, and all had sensory symptoms and areflexia. The diagnosis was acute inflammatory demyelinating polyneuropathy in 1 case and chronic inflammatory demyelinating polyradiculoneuropathy in 3. All cases received treatment with intravenous immunoglobulin, with significant improvement in 3 of 4 who had a long-term outpatient follow-up.

Conclusions: Continued identification and reporting of cases of demyelinating neuropathies after COVID-19 vaccination is essential to determine whether a causative association is present.

Introduction: Rarely, hyperthyroidism will initially present with chronic myopathy characterized by progressive and sometimes fluctuating proximal muscle weakness, along with elevated creatine kinase and myopathic pattern in the electromyogram, mimicking other muscle and neuromuscular junction disorders with poorer prognosis.

Cases: Here, we present 2 young patients who complained of 1-4 months duration of chronic proximal muscle lower extremity weakness, supported by elevated creatine kinase and myopathic pattern in electromyogram, who later found to have markedly low thyroid-stimulating hormone, high free T3 and free T4, enlarged thyroid gland on ultrasound, and elevated anti-thyroid-stimulating hormone receptor antibody, characteristic of Grave disease.

Conclusions: Although rare, thyrotoxicosis should always be ruled out in a patient with chronic myopathy because this has better prognosis than other primary muscle conditions presenting similarly.

Abstract: Dystrophinopathies result from mutations to the DMD gene. We report 5 boys in 3 families with heterogenous phenotypes due to a point mutation in the DMD gene: a hemizygous tyrosine-to-cysteine change in exon 15 (c.1724T>C) resulting in an amino acid substitution of leucine to proline at codon 575. This mutation has been reported before, with at least 3 prior patients presenting with similar clinical findings of myalgia, myoglobinuria, and occasional muscle cramping. The mutation on DMD c.1724T>C (p.Leu575Pro) is listed in the Clinvar database as a variant of unknown significance. Our report provides contributing evidence that this alteration should be classified as pathogenic.

Abstract: Dropped head syndrome (DHS) is an impairment of neck extension resulting in a chin-on-chest deformity. DHS is rarely seen but a major hindrance to daily function in affected patients. DHS has been associated with movement disorders, neuromuscular disorders, and electrolyte and endocrine abnormalities. DHS has also been seen in survivors of Hodgkin lymphoma (HL) years after irradiation. HL survivors are also at risk for endocrine hypogonadism after chemotherapy. We present the case of a 58-year-old male HL survivor with dropped head and limited strength in his atrophic neck extensor muscles. Laboratory testing and imaging, nerve conduction studies, electromyography, and muscle biopsy of the neck extensors revealed myopathic and neurogenic changes. Conservative management was unsuccessful. With a desire to avoid surgical fixation, he asked his primary care physician to check his testosterone levels, which returned as low normal. Within 4 months of starting testosterone therapy, he no longer experienced dropped head.