Dr Terry Kwong
St Vincents Clinic and St George Private Hospital
Congenital myopathies (CMs) are a group of inherited myopathies most commonly presenting in infancy with hypotonia and weakness.
Later onset of congenital myopathy is increasingly recognised.
They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance.
I am presenting a case of congenital myopathy presented to my adult rheumatology clinic. I will discuss the clinical features and current diagnostic approach.