Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Ana Nikolic, Giulia Ricci, Francesco Sera, Elisabetta Bucci, Monica Govi, Fabiano Mele, Marta Rossi, Lucia Ruggiero, Liliana Vercelli, Sabrina Ravaglia, Giacomo Brisca, Chiara Fiorillo, Luisa Villa, Lorenzo Maggi, Michelangelo Cao, Maria Chiara D'Amico, Gabriele Siciliano, Giovanni Antonini, Lucio Santoro, Tiziana Mongini, Maurizio Moggio, Lucia Morandi, Elena Pegoraro, Corrado Angelini, Antonio Di Muzio, Carmelo Rodolico, Giuliano Tomelleri, Maria Grazia D'Angelo, Claudio Bruno, Angela Berardinelli, Rossella Tupler
  • BMJ Open, January 2016, BMJ
  • DOI: 10.1136/bmjopen-2015-007798

The most interesting result is that there is a high clinical variability in children. with FSHD1

Photo by Melissa Labellarte on Unsplash

Photo by Melissa Labellarte on Unsplash

What is it about?

It is a muscular dystrophy called Facioscapulo-humeral -dystrophy type1.

Why is it important?

Is the largest series reported and beside index cases we studied the family for the presence of reduced allele, all was done scoring both patient and relatives with the clinical score we previously studied and validated in Muscle&Nerve 2010.

Perspectives

Prof Corrado Angelini
IRCCS S.Camillo Hospital Foundation

This is study is important if someone will do a clinical study in children or if these patients will undergo genetic counseling

Read Publication

http://dx.doi.org/10.1136/bmjopen-2015-007798

The following have contributed to this page: Prof Corrado Angelini