title: Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study.
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.
authors: IRCCS San Raffaele Pisana, Rome, Italy.
authors: M
authors: M
authors: Masciullo
authors: E
authors: E
authors: Iannaccone
authors: M L E
authors: ML
authors: Bianchi
authors: M
authors: M
authors: Santoro
authors: G
authors: G
authors: Conte
authors: A
authors: A
authors: Modoni
authors: M
authors: M
authors: Monforte
authors: G
authors: G
authors: Tasca
authors: F
authors: F
authors: Laschena
authors: E
authors: E
authors: Ricci
authors: G
authors: G
authors: Silvestri
mesh_terms: D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000473:pathology