[A case of facioscapulohumeral muscular atrophy presenting unusual squatting gait, associated with tongue atrophy and sensorineural hearing loss].

A 16-year-old girl has presented speaking disturbance since early in life. Difficulty in running was noted at the age of 7. Her mother (46 years old) had moderate facial weakness and mild proximal weakness of the upper and lower limbs. Neurological examination at age 9 revealed bilateral facial weakness, tongue atrophy and weakness of the shoulder girdle, upper arms, and thighs. Deep tendon reflexes were absent in the four limbs. Gait was waddling. Over the next several years, she developed wasting and weakness around the shoulder girdle, upper arms, thighs, and increased lordosis. She lost the ability to walk by age 13. Since then, she has moved with difficulty in a squatting position. Serum CK was moderately increased and needle EMG in the extremities revealed myopathic changes. Muscle CT demonstrated marked atrophy of the proximal muscles in the left arm and lower limbs and mild atrophy of the calves. Audiogram showed bilateral mild sensorineural hearing loss. Muscle biopsy of the quadriceps at age 9 showed nondiagnostic findings. This case could be diagnosed as congenital facioscapulohumeral muscular dystrophy. Tongue atrophy and sensorineural hearing loss are rarely associated with this syndrome, as well as unusual squatting gait.