A great athlete with muscular weakness

A 21-year-old Romanian man presented to our clinic for leanness assessment evolving for several years. He had been adopted at the age of 3 years old hence, no familial history was available. His medical history was notable for dyspraxia, dyslexia, bilateral cryptorchidism and scoliosis in infancy. He practiced water polo, swimming and martial arts, but in recent years, amyotrophy and weakness of both arms had developed (Figure, a) without dyspnea or swallowing troubles. Search for an underlying disease including malabsorption, endocrinopathy, infections, cancer, and anorexia nervosa had been ruled out previously by many specialists.