“Emery-Dreifuss muscular dystrophy (EDMD) is a rare and often slowly progressive genetic disorder that primarily affects skeletal and cardiac muscles. Contractures along with joint deformities are considered early features of the disease. Currently, nine types of EDMD are recognized.
We report a 21-year-old boy presenting muscle weakness and very high levels of CK since the age of six. At the physical examination, he was unable to stand up from the floor and to go up/down stairs, had mild contractures of the Achilles tendons, but no pseudo-hypertrophy of calves. Muscle biopsy showed a predominant inflammatory myopathy picture, which was treated with deflazacort.
He lost the ability to walk at the age of 15, when he manifested elbow contractures and atriogram atypias. At the ECG, a constant synus tachycardia was observed requiring treatment with beta-blockers. During the long follow-up a significant decrease in FVC values of up to 34% was also observed.
Whole Exome Sequencing (WES) detected a novel heterozygous loss-of-function variant (NM_182914.3: c.3481-1G>T) in SYNE2 gene, which encodes for a nuclear protein and is related to EDMD type 5.
EDMD type 5 is an adult-onset autosomal dominant form, sometimes associated with atrial fibrillation and dilated cardiomyopathy. However, the disease phenotype is not yet fully defined. The segregation studies, performed using Sanger sequencing, confirmed that the variant was de novo. Our results may contribute to broaden the spectrum of phenotypes of EDMD5.”