X-Linked Dystonia Parkinsonism (XDP)

Sex-linked recessive dystonia parkinsonism (XDP) is a movement disorder first reported in 1975 on patients from the island of Panay, Philippines. Dr George H. Viterbo, of Roxas City, Capiz (a province of Panay) referred to the neurology section of the Philippine General Hospital in the early 1970s, five of the six cases of what then was rare ‘dystonia musculorum deformans’. This initiated an epidemiologic survey, which resulted in the first paper published in 1976. In the original paper, Lee et al. described 28 adult male cases with torsion dystonia, from 25 families. There was no male to male transmission hence, the inference of sex-linked recessive transmission. Some of the patients were noted to have parkinsonian features and some had relatives with parkinsonism.

 
Lee and colleagues described the phenotype of the disease as a combination of dystonia and parkinsonism (K. G. Kupke et al., 1990; Lillian V. Lee et al., 1991) which was confirmed by Fahn and co-workers (Wilhelmsen et al., 1991). ]. Fahn called the disease ‘lubag’ based on the term used by the Ilongo speaking Filipinos to describe any movement characterized by torsion including children with cerebral palsy. The phenomenology of the disease was further elucidated in a 2001-2002 review (Lee et al., 2001, 2002).