muscular dystrophy
Definition
A group of genetic disorders characterized by progressive weakness and degeneration of skeletal muscles.
Clinical context
A 10-year-old boy presents with difficulty climbing stairs and rising from the floor. On examination, he has proximal muscle weakness and Gowers' sign. His creatine kinase levels are elevated. Genetic testing reveals dystrophin gene mutation. This condition typically follows an X-linked recessive inheritance pattern.
Mnemonic
Muscles weaken, dystrophy strikes - think DMD with Gowers sign and elevated CK