Dysferlinopathy, which is characterized by progressive muscle weakness, especially affecting the proximal muscles, is a rare autosomal recessive neuromuscular disorder. Early detection and diagnosing of this disorder is important for management, and the aim of management is to maintain a patient’s quality of life. We present a case report of a 39 year old Malay woman who presented with worsening weakness of proximal muscle since puberty, and underwent extensive investigation for a definitive diagnosis, which turned out to be dysferlinopathy. This case provides an overview of the genetic disorder dysferlinopathy in order to contribute to the limited existing literature and it highlights the importance of multidisciplinary care in the management of this rare disorders.
Kuen et al. (Fri,) studied this question.