گزارش سه مورد دیستروفی عضلانی امری ـ دریفوس در یک خانواده

Emery-Dreifuss muscular dystrophy (EDMD)can be seen in the middle childhood and the genetic patterns of them are X-linked recessive, autosomal dominant or recessive.           The classic triad of this disease are: 1-early contractures, particularly of the elbows, achilles tendons, and posterior cervical muscles; 2-cardiac conduction defects ;and 3-a slowly progressive weakness and atrophy in a humeroperoneal distribution. The early onset of contractures before the onset of any significant weakness is unique to this disease. This case study was done in two 12 and 3.5 years old brothers and their 8 years old sister in a family. The first one referred to the medical center because of   his weakness muscles of shoulders and arms. The second case was referred   with tip toe walking which has been started 8 months ago. The third case was referred with difficulties in walking and sitting and surgery on achilles tendons for her and the first case was performed at 4 and 8 years ago respectively. In physical examination contractures of achilles tendons , weakness of pelvic girdle muscles, positive gowers sign and tip toe walking     were observed in all three cases .           Echocardiogram in both boys and CK enzyme in all 3 patients were normal. In ECGs atrial flutter with 3:1 AV block was seen in all 3 individuals.   Muscle biopsy was nonspecific in the first case and mild focal atrophy was seen in thesecond case. Findings of myopathic patterns in electromyography were seen in all 3 patients. The genetic pattern of EDMD in this family is autosomal dominant. Stretching exercises and modalities such as ultrasound and hot pack were applied for these cases. The second was not     responded and surgery of achilles tendons release was recommended for him.