Summary

Alopecia-hypogonadism-extrapyramidal disorder is characterised by the association of a progressive extrapyramidal movement disorder with progressive alopecia and primary hypogonadism. It has been described in a single family with an affected brother and sister born to healthy first-cousin parents. Another of the nine siblings died immediately after birth with severe arthrogryposis. In the affected male, progressive learning problems, speech difficulties and gait disturbance were first observed at age 12 years. Muscle strength and hand control diminished, resulting in difficulties with tasks involving fine motor skills such as writing. At age 17 years, he had delayed puberty with absence of secondary sexual characteristics, dystonia of the left arm and dysarthria. Progressive alopecia was observed in his early 20s. At age 47, he was able to walk very little, could produce only a few vocal sounds, and had difficulty eating and drinking. His uncontrolled movements were dystonic and choreoathetotic, especially those of the upper limbs. In the sister, learning difficulties were noted in primary school, and she required special education. A progressive gait disturbance, particularly in the right leg, began at age 14 and she was wheelchair-bound by her early 20s. Around the age of 14, a slowly progressive dysarthria and alopecia developed. There was primary amenorrhea, with no development of secondary female sexual characteristics. Facial appearance was very similar to that of her brother. The mode of transmission is likely to be autosomal recessive .