Testicular atrophy or features of ovarian insufficiency (i.e., infertility)
Frontal balding
Cognitive and behavioral impairment
Duchenne muscular dystrophy (DMD)
Gower maneuver
The individual arrives at a standing position by supporting themselves on their thighs and then using the hands to “walk up” the body until they are upright.
Classic sign of DMD, but also occurs in inflammatory myopathies (e.g., dermatomyositis, polymyositis) and other muscular dystrophies (e.g., BMD)
Calf pseudohypertrophy
Mutations affecting the dystrophin gene→ alterations of dystrophin protein structure → partial (BMD) or almost complete (DMD) impairment of protein function → disturbance of numerous cellular signaling pathways → necrosis of affected muscle cells → replacement with connective tissue and fatty tissue → affected muscles are weak even though they appear larger (“pseudohypertrophy”)