Anna Rosa Avallone
AChR-Seropositive Myasthenia Gravis in Muscular Dystrophy: diagnostic pitfalls and clinical management challenges
Autori
- ANNA ROSA AVALLONE (NEUROLOGY UNIT, DEPARTMENT OF MEDICINE, SURGERY AND DENTISTRY “”SCUOLA MEDICA SALERNITANA”” – UNIVERSITY HOSPITAL SAN GIOVANNI DI DIO E RUGGI D’ARAGONA – SALERNO, ITALY – NEUROLOGY)
- LILIANA BEVILACQUA (NEUROLOGY UNIT, DEPARTMENT OF MEDICINE, SURGERY AND DENTISTRY “”SCUOLA MEDICA SALERNITANA”” – UNIVERSITY HOSPITAL SAN GIOVANNI DI DIO E RUGGI D’ARAGONA – SALERNO, ITALY – NEUROLOGY)
- PAOLO ALONGE (DEPARTMENT OF BIOMEDICINE, NEUROSCIENCE, AND ADVANCED DIAGNOSTIC (BIND), UNIVERSITY OF PALERMO, PALERMO, ITALY – NEUROLOGY)
- ANTONINO LUPICA (DEPARTMENT OF BIOMEDICINE, NEUROSCIENCE, AND ADVANCED DIAGNOSTIC (BIND), UNIVERSITY OF PALERMO, PALERMO, ITALY – NEUROLOGY)
- SIMONA MACCORA (DEPARTMENT OF BIOMEDICINE, NEUROSCIENCE, AND ADVANCED DIAGNOSTIC (BIND), UNIVERSITY OF PALERMO, PALERMO, ITALY – NEUROLOGY)
- SONIA AMABILE (MEDICAL GENOMICS PROGRAM, AOU S. GIOVANNI DI DIO E RUGGI D’ARAGONA, UNIVERSITY OF SALERNO, 84131 SALERNO, ITALY – MEDICAL GENETICS)
- FILIPPO BRIGHINA (DEPARTMENT OF BIOMEDICINE, NEUROSCIENCE, AND ADVANCED DIAGNOSTIC (BIND), UNIVERSITY OF PALERMO, PALERMO, ITALY – NEUROLOGY)
- VINCENZO DI STEFANO (DEPARTMENT OF BIOMEDICINE, NEUROSCIENCE, AND ADVANCED DIAGNOSTIC (BIND), UNIVERSITY OF PALERMO, PALERMO, ITALY – NEUROLOGY)
- CLAUDIA VINCIGUERRA (NEUROLOGY UNIT, DEPARTMENT OF MEDICINE, SURGERY AND DENTISTRY “”SCUOLA MEDICA SALERNITANA”” – UNIVERSITY HOSPITAL SAN GIOVANNI DI DIO E RUGGI D’ARAGONA – SALERNO, ITALY – NEUROLOGY)
Presentatore
ANNA ROSA AVALLONE (NEUROLOGY UNIT, DEPARTMENT OF MEDICINE, SURGERY AND DENTISTRY “SCUOLA MEDICA SALERNITANA” – UNIVERSITY HOSPITAL SAN GIOVANNI DI DIO E RUGGI D’ARAGONA – SALERNO, ITALY)
Modalità
Poster Session
Abstract
“Muscular dystrophies (MD) are progressive conditions caused by genetic alterations that lead to the degeneration of skeletal muscles. Myasthenia gravis (MG) is an autoimmune disorder characterized by antibodies targeting the neuromuscular junction, resulting in fatigable weakness affecting ocular, bulbar and limb muscles. Although uncommon, there are instances where genetic myopathies and MG coexist. This case series explores such occurrences, highlighting concurrent MG with oculopharyngeal muscular dystrophy (Case 1), facioscapulohumeral muscular dystrophy (Case 2), or myotonic dystrophy type 2 (Case 3). The cases demonstrate atypical presentations marked by unusual symptom fluctuations, sometimes leading to myasthenic crises, necessitating distinct therapeutic approaches. Our objective is to investigate the relationship between muscle deterioration in genetic diseases and autoimmunity, indicating intricate interactions between the innate and adaptive immune systems.
In genetic myopathies, local muscle damage can initiate an autoinflammatory response, activating innate immune mechanisms. The overlap of these conditions poses a challenge for clinicians in accurately attributing symptoms to the underlying disorder. Future research is crucial to delve into the mechanisms behind this association and establish a more personalized clinical-therapeutic approaches.”