Casi indimenticabili
La clinica: quando i geni hanno bisogno di un traduttore
Rare congenital myasthenic syndrome: a case report
Alessia Ferrara
Scuola di Specializzazione in Pediatria, IRCCS Materno-Infantile “Burlo Garofolo”, Università di Trieste
Novembre 2025 | DOI: 10.53126/MEBXXVIIIN243
Abstract
The paper reports the case of a 17-year-old boy initially diagnosed with facioscapulohumeral muscular dystrophy, whose clinical course was unexpectedly severe. Despite near-normal CK levels, he showed transient strength improvement after salbutamol. Whole-exome sequencing revealed compound heterozygous mutations in the DOK7 gene and confirmed a rare congenital myasthenic syndrome responsive to salbutamol. Targeted therapy restored ambulation and functional independence. This case highlights the need to integrate clinical and genetic data in the differential diagnosis of myopathies and congenital myasthenic syndromes.
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