ea0024p7 | (1) | BSPED2010
Anand G
, McHale E
, Ray N
, McShane M A
, Ryan F J
Myotonic Dystrophy is an autosomal dominant multi-system disorder characterised by muscle weakness and myotonia, with associated cardiac, ophthalmic, gastrointestinal and endocrine abnormalitiesA 16-year-old boy was referred with a 2 months history of difficulty releasing his hand-grip and problems with swallowing. The clinical diagnosis of myotonic dystrophy 1 was confirmed with genetic testing with the detection of a DMPK expansion mutation. During inv...