Diaphragmatic Ultrasonography in the respiratory assessment of Facioscapulohumeral Muscular Dystrophy (FSHD): a promising approach for management and longitudinal follow-up

Eleonora Torchia

Diaphragmatic Ultrasonography in the respiratory assessment of Facioscapulohumeral Muscular Dystrophy (FSHD): a promising approach for management and longitudinal follow-up

Autori

ELEONORA TORCHIA (UNIVERSITÀ CATTOLICA DEL SACRO CUORE, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCCS, ROMA, ITALY – NEUROLOGIA)
SARA BORTOLANI (UNITÀ OPERATIVA COMPLESSA DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – NEUROLOGIA)
BEATRICE RAVERA (UNIVERSITÀ CATTOLICA DEL SACRO CUORE, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCCS, ROMA, ITALY – NEUROLOGIA)
RICCARDO INCHINGOLO (UNITÀ OPERATIVA COMPLESSA DI PNEUMOLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – PNEUMOLOGIA)
ANDREA SMARGIASSI (UNITÀ OPERATIVA COMPLESSA DI PNEUMOLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – PNEUMOLOGIA)
FRANCESCO MACAGNO (UNITÀ OPERATIVA COMPLESSA DI PNEUMOLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – PNEUMOLOGIA)
MAURO MONFORTE (UNITÀ OPERATIVA COMPLESSA DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – NEUROLOGIA)
GIORGIO TASCA (JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, NEWCASTLE UNIVERSITY AND NEWCASTLE HOSPITALS NHS FOUNDATION TRUSTS, NEWCASTLE UPON TYNE, UK – NEUROLOGIA)
MATTEO BONINI (UNITÀ OPERATIVA COMPLESSA DI PNEUMOLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – PNEUMOLOGIA)
LUCA RICHELDI (UNITÀ OPERATIVA COMPLESSA DI PNEUMOLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – PNEUMOLOGIA)
ENZO RICCI (UNITÀ OPERATIVA COMPLESSA DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – NEUROLOGIA)

Presentatore

ELEONORA TORCHIA (UNIVERSITÀ CATTOLICA DEL SACRO CUORE, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCCS, ROMA, ITALY)

Modalità

Oral Communication

Abstract

“Respiratory involvement is a relatively rare manifestation of FSHD, typically observed in severe phenotypes. Inspiratory muscle function has been indirectly assessed through spirometry, using forced vital capacity (FVC) as a surrogate marker. Diaphragmatic ultrasonography (DUS) was described as non-invasive tool able to detect alteration of the main inspiratory muscle. The aim of this study is to identify DUS parameters to improve respiratory management and longitudinal follow-up in a cohort of FSHD patients.
Genetically confirmed adult FSHD patients were enrolled and evaluated through pulmonary function tests and DUS at baseline and after one year (T12). Diaphragmatic trophism was estimated as the thickness at the end of a normal expiration (basal-DT) and after a maximal inspiration (max-DT); the ratio between max-DT and basal-DT was used as measure of diaphragmatic contractility; diaphragmatic excursion was also calculated.
Thirty-seven patients (23 males and 14 females) were enrolled. Pulmonary function tests were abnormal in up to 19% of FSHD patients, while diaphragm weakness was present in up to 43% of FSHD patients, in term of trophism and contractility.
To date, 11 patients underwent T12 evaluation, 8 of whom with normal ultrasound and functional values at baseline; after one year, a reduction of diaphragmatic trophism was found in 2 of these 8 patients. No significant modification of pulmonary function tests was observed at T12.
This pilot study suggests that muscle weakness also involves the diaphragm in FSHD and DUS indexes could be promising markers in early detection of inspiratory abnormalities and in longitudinal follow-up of FSHD patients.”