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

M. Masciullo, E. Iannaccone, M. L E Bianchi, M. Santoro, G. Conte, A. Modoni, M. Monforte, G. Tasca, F. Laschena, E. Ricci, G. Silvestri

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)427-431
Number of pages5
JournalNeuromuscular Disorders
Volume23
Issue number5
DOIs
Publication statusPublished - May 2013

Keywords

  • Double trouble
  • FSHD
  • Muscle MRI study
  • Myotonic dystrophy type 1

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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