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Syndrome characterized by hypogonadism, alopecia, and progressive neurologic and intellectual symptoms.

Has been suggested to be a newly discovered autosomal recessive disorder based on its presence in two children (a boy and a girl) of consanguineous parents.

The boy's childhood was described as uneventful. First symptoms were noted at about age 12 years, when speech difficulties and learning problems and gait abnormalities were noted. Fine motor skills started to decline thereafter, mainly as a consequence of reduced muscle strength and neurologic control. Absence of puberty (prepubertal penis and testes) and nondevelopment of secondary male sex characteristics were diagnosed at age 17 years. Neurologic examination at that time showed dystonia and dysarthria that, by age 47 years, had progressed to almost complete inability to walk (as a consequence of dystonic and choreoathetotic movements) and speak, combined with eating and drinking difficulties. Alopecia was noted in early adulthood. The sister was affected earlier than her brother, with learning problems noted in primary school, requiring special education. Her motor skills declined faster, and she was wheelchair-bound by the time she was in her early 20s. She also showed signs of primary hypogonadism and no development of secondary female sex characteristics. Dysarthria and alopecia occurred at age 14 years and were slowly progressive.

None reported. However, depending on the age and severity of neurologic symptoms, recurrent pulmonary aspirations are possible, and a preoperative chest radiograph might be helpful. Long-term muscle inactivity (wheelchair-bound) precludes the use of succinylcholine because of the risk of a hyperkalemic response.

Devriendt K, Legius E, Fryns JP: Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: A new syndrome? Am J Med Genet 62:54, 1996.  [PubMed: 8779325]

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