Beatrice Ravera
Axial involvement in Facioscapulohumeral dystrophy (FSHD): imaging and clinical features.
Autori
- BEATRICE RAVERA (UNIVERSITÀ CATTOLICA DEL SACRO CUORE, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCCS, ROMA, ITALY – NEUROLOGY)
- SARA BORTOLANI (UNITÀ OPERATIVA COMPLESSA DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – NEUROLOGY)
- ELEONORA TORCHIA (UNIVERSITÀ CATTOLICA DEL SACRO CUORE, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCCS, ROMA, ITALY – NEUROLOGY)
- MAURO MONFORTE (UNITÀ OPERATIVA COMPLESSA DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – NEUROLOGY)
- GIORGIO TASCA (JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, NEWCASTLE UNIVERSITY AND NEWCASTLE HOSPITALS NHS FOUNDATION TRUSTS, NEWCASTLE UPON TYNE, UK – NEUROLOGY)
- ENZO RICCI (UNIVERSITÀ CATTOLICA DEL SACRO CUORE, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCCS, ROMA, ITALY; UNITÀ OPERATIVA COMPLESSA DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCSS, ROME, ITALY – NEUROLOGY)
Presentatore
BEATRICE RAVERA (UNIVERSITÀ CATTOLICA DEL SACRO CUORE, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCCS, ROMA, ITALY)
Modalità
Poster Session
Abstract
“Introduction
Axial muscle involvement has been described in FSHD patients and classified as an atypical feature. The aim of this study was to analyze the prevalence of axial muscle involvement in an unselected consecutive cohort of FSHD patients and define their clinical and radiological characteristics.
Materials/methods
We retrospectively reviewed medical records of genetically confirmed FSHD adult patients selecting those with predominant axial weakness. Demographic, genetic, clinical (Clinical Severity Score, Comprehensive Clinical Evaluation Form (CCEF), Medical Research Council score), muscle magnetic resonance imaging (MRI) data and family history were collected.
Results
Thirty-five out of 264 patients were included, mean age was 71 ± 11, mean EcoRI fragment size was 26 kb ± 6, mean CSS 3 ± 0.5. One third of them were classified as category D according to CCEF and presented selective axial weakness without significant proximal and distal lower limb muscle involvement. Axial weakness was the first complaint in 23% of patients. Facial weakness was absent in 30% of the cohort. Family history was negative in 26% of cases. Muscle MRI showed severe fatty infiltration of paraspinal muscles in all patients along with an invariable scapular girdle muscle involvement. Neck extensor muscles were severely affected in 27% of the population.
Conclusions
Axial weakness is not uncommon in FSHD patients and may present as the first complaint. Its manifestations include a spectrum of signs that goes beyond bent spine and dropped head, potentially affecting gait stability even in the absence of lower limb involvement, making its evaluation crucial in clinical practice.”