A case of Emery Dreifuss Muscular Dystrophy with SYNE1 and SYNE2 mutations and white matter involvement

Introduction: Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disease characterized by early-onset contractures, weakness in the scapulo-humero-peroneal muscles and cardiac involvement. Heterozygous SYNE mutations are a rare cause of EDMD. Case Report: A nine-month-old patient was brought to our outpatient clinic with the inability to hold his head and sit. There was no consanguinity between the parents. In the physical examination hypotonicity and contractures of the feet were detected; DTR could not be obtained in the lower extremities. Serum creatine kinase (CK) level was 3832 mg/dl. EMG revealed myogenous involvement. Cranial MRI revealed white matter hyperintensity. In the congenital muscular dystrophy gene panel heterozygous c.3046C>T (p.Pro1016Ser) mutations in the SYNE 1 gene and heterozygous c.18723+14C>T mutations in the SYNE 2 gene detected. In the neurological examination of the patient, who is now 2 years old, it was observed that he could sit without support and could not walk. There were scapular winging, contractures of the feet, and scapulohumeral and peroneal weakness. No cardiomyopathy was observed. His EKG showed incomplete right bundle branch block. He received physical therapy and rehabilitation support and his cognitive functions were evaluated as moderately retarded. Discussion: The SYNE (synaptic nuclear envelope protein) gene encodes nesprin, a large protein characterized by the presence of multiple spectrin repeats which is highly expressed in striated muscles. In literature the SYNE1 gene was related with different phenotypes but according to our investigations there is not any SYNE1 or SYNE2 mutation with white matter involvement.
Keywords: Emery Dreifuss Muscular Dystrophy, SYNE1, white matter involvement