Publications by authors named "Catarina Falcao Campos"

Article Synopsis
  • * A case report details a 21-year-old woman with LEMS who initially improved with treatment but developed psychotic symptoms leading to steroid discontinuation and later experienced worsening health, including respiratory distress and difficulties with swallowing.
  • * After undergoing plasmapheresis and starting rituximab, her muscle strength partially improved, but her psychiatric symptoms remained, indicating a potential separate psychiatric issue alongside her neuromuscular condition.
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Background: Late-onset Pompe disease (LOPD) patients may still need ventilation support at some point of their disease course, despite regular recombinant human alglucosidase alfa treatment. This suggest that other pathophysiological mechanisms than muscle fibre lesion can contribute to the respiratory failure process. We investigate through neurophysiology whether spinal phrenic motor neuron dysfunction could contribute to diaphragm weakness in LOPD patients.

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Introduction: Nusinersen was approved for 5q spinal muscular atrophy (SMA), irrespective of age, SMA type or functional status. Nonetheless, long-term data on adults with milder phenotypes are scarce. We aimed to characterize evolution on motor and respiratory function in our cohort of adults with type 3 SMA.

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