TY - JOUR
T1 - Myotonic dystrophy type 1 and de novo FSHD mutation double trouble
T2 - A clinical and muscle MRI study
AU - Masciullo, M.
AU - Iannaccone, E.
AU - Bianchi, M. L E
AU - Santoro, M.
AU - Conte, G.
AU - Modoni, A.
AU - Monforte, M.
AU - Tasca, G.
AU - Laschena, F.
AU - Ricci, E.
AU - Silvestri, G.
PY - 2013/5
Y1 - 2013/5
N2 - 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.
AB - 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.
KW - Double trouble
KW - FSHD
KW - Muscle MRI study
KW - Myotonic dystrophy type 1
UR - http://www.scopus.com/inward/record.url?scp=84876086150&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84876086150&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2013.02.002
DO - 10.1016/j.nmd.2013.02.002
M3 - Article
C2 - 23466272
AN - SCOPUS:84876086150
VL - 23
SP - 427
EP - 431
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 5
ER -