X-linked dystonia parkinsonism

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X-linked dystonia parkinsonism
Other names: Lubag syndrome
X-linked recessive.svg
This condition is inherited in an X-linked recessive manner

X-linked dystonia parkinsonism (XDP), also known as Lubag Syndrome or X-linked Dystonia of Panay, is a rare x-linked progressive movement disorder with high penetrance found almost exclusively in males from the Panay, Philippines.[1] It is characterized by dystonic movements first typically occurring in the 3rd and 4th decade of life. The dystonic movements often either coexist or develop into parkinsonism within 10 years of disease onset.

Symptoms and signs

Truncal dystonia (manifest)

Symptoms typically present in the 3rd or 4th decade of life,[2] but have been seen as early as the age of 14. It presents with torsion dystonia, particularly when presenting at a younger age, which then progresses to parkinsonism with or without ongoing dystonia. Often the two symptoms coexist. The parkinsonian features of x-linked dystonia parkinsonism include:

It often lacks a resting tremor, helping to differentiate it from Parkinson's disease.[citation needed]


X-linked dystonia parkinsonism is thought to result from a mutation of the TAF1 (TATA-binding protein-associated factor 1) gene at Xq13.1. It has an X-linked, recessive pattern of inheritance. Genetic analysis suggests that the responsible mutation was introduced into the ethnic groups of Panay (especially to the Hiligaynon people) over two millennia ago.[3]


In terms of the diagnosis of this condition is done via neuroimage findings, family history and genetic testing [4]

Differential diagnosis

DDx is based on the following:[4]

  • Parkinson's disease
  • Hereditary essential tremor
  • Parkinson-plus syndromes.


There is no cure for XDP and medical treatment offers only temporary relief.[5] Some authors have reported benzodiazepines and anticholinergic agents in the early stages of the disease. Botulinum toxin injections have been used to relieve focal dystonia.[6] Deep brain stimulation has shown promise in the few cases treated surgically.[7]


Although all early reported cases occurred in the Philippines, X-linked dystonia parkinsonism has been diagnosed in the US, Canada, and Germany in people of Filipino descent. The prevalence in the Philippines has been estimated at 1/322,000 and as high as 1/4,000 in the province of Capiz's male population. As an x-linked recessive disease, the majority of those affected are males with females generally being asymptomatic carriers.[6] In the largest described series, the mean age of onset was 39.7 years, the mean duration of illness was 16 years, and the mean age of death was 55.6 years.[5]


The high concentration of XDP in the Philippines was first documented in the 1970s after the Philippine General Hospital received 5 neurology referrals labelled as "dystonia musculorum deformans". This sparked an epidemiological survey which was published in 1976. Lee et al. described a series of 28 men, 23 of whom were from Panay Island. She found six families that each had more than one male member affected with XDP and found that there was no male to male transmission. There was also a family history of parkinsonism in some of the patients. The name Lubag is based on the term used by Ilongo speaking Filipinos. It describes any movements with torsion.[2]


  1. Evidente, Virgilio Gerald H.; Advincula, Joel; Esteban, Raymund; Pasco, Paul; Alfon, Jhoe Anthony; Natividad, Filipinas F.; Cuanang, Joven; Luis, Amado San; Gwinn-Hardy, Katrina; Hardy, John; Hernandez, Dena; Singleton, Andrew (November 2002). "Phenomenology of ?Lubag? or X-linked dystonia-parkinsonism". Movement Disorders. 17 (6): 1271–1277. doi:10.1002/mds.10271. PMID 12465067. S2CID 43116919.
  2. 2.0 2.1 Lee, LV; Munoz, EL; Tan, KT; Reyes, MT (December 2001). "X linked recessive dystonia parkinsonism of Panay, Philippines (XDP)". Molecular Pathology. 54 (6): 362–8. PMC 1187125. PMID 11724910.
  3. National Organization for Rare Disorders (2003). NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. p. 619. ISBN 9780781730631. Archived from the original on 2016-04-20. Retrieved 2021-09-28.
  4. 4.0 4.1 "X-linked dystonia-parkinsonism/Lubag | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 20 March 2021. Retrieved 16 October 2021.
  5. 5.0 5.1 Lee, LV; Rivera, C; Teleg, RA; Dantes, MB; Pasco, PM; Jamora, RD; Arancillo, J; Villareal-Jordan, RF; Rosales, RL; Demaisip, C; et al. (2011). "The unique phenomenology of X-linked dystonia parkinsonism (XDP, CYT3, "Lubag")". International Journal of Neuroscience. 121 (1): 3–11. doi:10.3109/00207454.2010.526728. PMID 21047175. S2CID 6083588.
  6. 6.0 6.1 [1] Archived 2017-08-10 at the Wayback Machine Orphanet: X-linked dystonia parkinsonism. Accessed December 18th, 2014.
  7. Kompoliti, Katie; Verhagen, Leonard (February 26, 2010). Encyclopedia of Movement Disorders, Volume 1. Academic Press. pp. 350, 412. ISBN 9780123741059. Archived from the original on October 17, 2021. Retrieved January 5, 2019.

External links

External resources