Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy


A 28-year old male was examined due to progressive proximodistal muscle weakness of three years’ duration. Severe generalized skeletal muscle weakness and atrophy spared only the facial and distal hand muscles. The patient had marked neck rigidity and scapular winging. Echocardiography was normal. Over the following three years, weakness progressed rapidly and the patient became wheelchair-bound. Muscle MRI at age 29 showed severe fatty degeneration of the thigh and lower leg muscles predominantly involving the posterior compartments, whereas gluteus maximus muscles were markedly hypertrophic (Fig. 1A).


Leave A Reply