Effective treatment with oral Salbutamol on late onset respiratory impairment in a DOK7 Congenital Myasthenia Syndrome: a case report

Corina Tomsa; Fausta Viccaro; Luigi Panza; Letizia D'Antoni; Paolo Palange

doi:10.5826/mrm.2024.942

Effective treatment with oral Salbutamol on late onset respiratory impairment in a DOK7 Congenital Myasthenia Syndrome: a case report

Authors

Corina Tomsa Department of Public Health and Infectious Diseases, Sapienza University of Rome, Pulmonary Division, Policlinico Umberto I Hospital, Rome, Italy https://orcid.org/0009-0008-9204-9456
Fausta Viccaro Department of Public Health and Infectious Diseases, Sapienza University of Rome, Pulmonary Division, Policlinico Umberto I Hospital, Rome, Italy
Luigi Panza Department of Public Health and Infectious Diseases, Sapienza University of Rome, Pulmonary Division, Policlinico Umberto I Hospital, Rome, Italy
Letizia D'Antoni Department of Public Health and Infectious Diseases, Sapienza University of Rome, Pulmonary Division, Policlinico Umberto I Hospital, Rome, Italy
Paolo Palange Department of Public Health and Infectious Diseases, Sapienza University of Rome, Pulmonary Division, Policlinico Umberto I Hospital, Rome, Italy

DOI: https://doi.org/10.5826/mrm.2024.942

Keywords:

Congenital Myasthenia Syndrome, Salbutamol, Myopathy, DOK7, respiratory insufficiency

Abstract

Introduction: DOK7 gene deficiency is a neuromuscular disease with an alteration in post-synaptic neuromuscular junction, leading to progressive respiratory impairment. Although, the therapy is not standardized, adrenergic agonists are suggested as first-line treatment.
Case presentation: Our patient had an ambiguous late childhood-onset and had a generalized muscle weakness free of respiratory symptoms during the early phase of the disease. Subsequently, when the respiratory muscle and the diaphragm involvement was impaired, a substantial loss of respiratory function with hypopneas and severe desaturation was detected. It was noteworthy the striking respiratory beneficial impact of oral salbutamol in the resolution of symptoms and functional impairments, leading to a remarkable respiratory improvement and a better quality of life.
Conclusion: Oral salbutamol treatment combined to a timely clinical recognition led to an outstanding respiratory improvement

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