Siblings with nemaline myopathy: a case of rare genetic mutation

Abstract

Nemaline myopathy (NM) is a rare, congenital myopathy with varied clinical presentation. This case report talks about varied manifestation of this condition among siblings from same couple with a rare specific mutation at molecular level among the known mutations reported for NM. The subsequently mentioned patient had severe respiratory distress and recurrent respiratory tract infections since infant, which led to meticulous investigations and relevant family history charting. Such methods proved to be fruitful for suspecting and subsequently led to successful diagnosis of NM in the patient and aforementioned siblings. The diagnosis of NM was made with proper genetic testing, and patient was put on ventilatory support and appropriate physiotherapy for muscle weakness. Lower respiratory tract infections were treated with appropriate antibiotics and medications as and when required. To conclude this case report, advising adequate pre-conceptional genetic counselling to the couple having affected siblings with dire outcomes, which helps avoid the psychological, financial and medical demands of managing such conditions.