Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study

Enzo Ricci, Gabriella Silvestri, Marcella Masciullo, Maria Laura Ester Bianchi, Massimo Santoro, Mauro Monforte, Giorgio Tasca, M. Santoro, G. Tasca, F. Laschena

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

13 Citazioni (Scopus)

Abstract

Here we describe the first case of myotonic dystrophy type 1 (DM1) associated with facio–scapulo–humeral dystrophy (FSHD). From a clinical point of view, the patient displayed a pattern of muscle involvement reminiscent of both disorders, including hand-grip myotonia, facial, axial and distal limbs muscle weakness as well as a bilateral winged scapula associated with atrophy of the pectoralis major muscle and lumbar lordosis; pelvic muscles were mostly spared. An extensive muscle MRI assessment including neck, shoulder, abdominal, pelvic and lower limb muscles documented radiological features typical of DM1 and FSDH. Molecular genetic studies confirmed that the proband carried both a pathologically expanded DMPK allele, inherited from his father, and a de novo shortened D4Z4 repeat fragment at 4q35 locus.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
Numero di pagine5
RivistaNeuromuscular Disorders
Volume2013
Stato di pubblicazionePubblicato - 2013

Keywords

  • FSDH
  • myotonic dystrophy

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