Clinical:Lubag Disease

Lubag Disease is a form of a rare movement disorder characterized by a combination of dystonia and parkinsonism.¹

Other Names

X-linked dystonia-parkinsonism (XDP)
Sex linked recessive dystonia parkinsonism

Signs and Symptoms

Dystonia is observed as a series of limb twisting and repetitive movements or abnormal postures due to sustained muscle contractions.² Parkinsonism is characterized by [tremor], hypokinesia, rigidity, and postural instability.³

Lubag Disease then is characterized by severe, progressive torsion dystonia dominating the first 10-15 years of the disorder.⁴ The dystonia is associated or replaced by parkinsonian features in the later years of life.⁵

The symptoms of dystonia in these patients may manifest in one body part—eyes, neck, vocal cord, hand, foot, or trunk. It may progress or start affecting two body parts at the same time, one side of the body (e.g. left hand and foot), or it may affect the entire body.⁶

An article by the Mayo Clinic described a certain patient's symptoms to have began slowly—

"First his writing became more unintelligible. Then he began losing facial expressions. His toes and legs began cramping. Finally, his speech was affected to the point where his patients and family could no longer understand him."

Sign and symptoms are not just limited to one’s movement. Memory and language may also be evidently affected.⁸

Causes

The cause is genetic.⁹

The gene called DYT3 has been localized to chromosome Xq13.1.¹⁰

Epidemiology

It is said to be uniquely found in adult Filipino males whose ancestries trace back to the Panay Island in the Philippines.²⁰

This same source noted a prevalence of 0.36/100,000 basing on 268 survivors in a population of 74 million. This included a prevalence data for the entire island of Panay with the rate of 4.77/100,000. Among the five provinces in this island, Capiz has the highest prevalence at 21.94 cases/100,000. Lubag is said to be an endemic disease in Panay Island, especially in Capiz.²¹

For every 123 males affected, there is 1 female. The recorded ages of onset were between 12 to 64 years old with a mean age of 39.5.²⁵

Diagnosis

Diagnostic tests include:
Blood DNA test¹¹
CT Scan¹²
MRI¹³
PET Scan¹⁴

Treatment

Most forms of treatment tried have not shown to be effective. Amongst them are oral medications—anticonvulsants, antihistamines, anticholinergics, antiparkinsonian drugs, and antipsychotic drugs, botolinum toxin, and surgery—thalamotomy, cerebellar implantation, pallidotomy.¹⁵

Deep brain stimulation (DBS) has also been tried and has shown more promise¹⁶ albeit with side effects.¹⁷

“DBS surgery involves implanting electrodes into the brain and stimulating certain deep brain nuclei with pulse generators that help correct abnormal brain circuits....”¹⁸

Therapy includes genetic counseling for families with DYT3.¹⁹

History and Socio-Cultural Issues

One article mentioned a theory relating Ashkenazi Jews’ migration from 800 generations ago from Europe to Malaysia and the Philippines. This group married with the native inhabitants of Panay Island. In the same article, it mentioned that one of the migrant Jews became ill and exhibited persistent contractions of muscles and continuous repetitive movement to the point of abnormal posture.²². It also mentioned that dystonia (type not mentioned) was endemic among Ashkenazi Jews having the females as carriers and males being affected²³. This is characteristic of an X-linked recessive disease.

Legends always told of Capiz to be inhabited by aswang (the Philippine version of the vampires). The same article interestingly traced this myth to Lubag.

“The dystonic tried to hide their situation from their neighbors by not going out of their houses especially at daytime. Ignorance about the disease led them to feelings of shame and the belief that it was a curse from God. They only felt free to come out at night because people are usually inside their houses at dusk. The poor visibility during the night coupled with the fear of the unknown led people who saw them think that they were malevolent creatures from the dark side. These creatures were called aswang. Through centuries by word of mouth, the aswang became part of the country’s myths of dark creatures, together with the kapre (dark giant man holding a long cigar who lives on trees), dwende (dwarf), and other lamang lupa (creatures beneath the ground). Well, inspite of the horror stories, the people of Capiz still manages to laugh it off and holds a yearly “ Aswang Festival''”.

Notes and References

^{1 4 12 13 14 15 20 21 25}Lee LV, Munoz EL, Tan KT, Reyes MT. Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP). Mol Pathol. 2001 December; 54 (6): 362-368. PubMed
^{2 6}S. J. Frucht and S. Fahn, editors. Current Clinical Neurology: Movement Disorder Emergencies: Diagnosis and Treatment. Totowa, NJ, Humana Press, Inc., 2005. eISBN 1-59259-902-8 DocStoc
³ Wikipedia: Parkinsonism
^{7 16 18}Mayo Clinic: Patient Stories
^{8 9}Wikipedia: Malata di Lubag
¹⁰ Worldwide Education and Awareness for Movement Disorders. (December 7, 2008). WE MOVE
^{11 19 20}Deng H, Le WD, Jancovic J. Genetic Study of an American family with DYT3 dustonia (lubag). Neurosci Lett. 2008 Dec 26;448(2):180-3. PubMed
^{17 20}Howe LL, Kellison IL, Fernandez HH, Okun MS, Bowers D. Grand Rounds Neuropsychological Profile of a Filipino Gentleman with X-Linked Dystonia-Parkinsonism: A Case Report of Lubag Disease. Clin Neuropsychol. 2008 Mar 12:1-18. PubMed
^{22 23 24}Wellsphere