Modern scientific innovations have opened numerous ways of understanding human disorders, some of which until then had been baffling to the human race. The study of genetic disorders is thus important for trying to understand their high incidences among a particular population. The Filipinos are a people with various ethnicities gathered from around the world. This blend of genetics has resulted in the manifestation of unique genetic disorders that are exclusively evident among the ethnic groups in Philippines. Scientific explanations to these occurrences are traced back to genomes that were passed down through ancestral linkages leading to accumulation of disorders among the ethnic groups in Philippines. This paper discusses signs, symptoms and treatment for genetic conditions among the Filipino ethnic populations.
According toDavid- Padilla & Cutiongco-de la Paz (2009), genetic studies have opened ways of understanding and even treating disorders that have been affecting people for a long time. Ethnic studies of gene-linked disorders have indeed proved that some ethnic groups have higher incidences of a given disorder as compared to others. Among the Philippines there are people with several ethnic groups with genes drawn from Asia to Spain. A number of genetic disorders that are exclusive to Filipino have been observed among them. This paper discusses genetic conditions among the Filipino ethnic populations and analyses their signs, symptoms and treatments.
X-linked Dystonia-Parkinsonism is rare genetic condition, occurring in the rate of 5.24 per 1000 people in the most affected Island of Panay. Most victims of this genetic condition trace their maternal ancestry from this island. The condition is observed exclusively among the Filipino ethnic populations. The condition is described as a movement disorder because of its tendency to affect coordination muscles. It is common among the male population as compared to the female. As observed byNational Institute of Neurological Disorders and Stroke (2012), genetically linked condition, Dystonia-Parkinsonism, is characterized by tremor, slow movements, rigidity, inability to hold in upright posture and a shuffling walk that often cause falls. These signs are observed earlier in the life of the affected person. However, as the person ages, more signs are revealed.
These signs include the development of involuntary patterns that are characterized by contraction of muscles. This contraction is known as Dystonia and begins in localized area, mostly the jaw, neck or eyes and later spreads to other body parts. The constant muscle cramping and seizures produce a disabling effect on the patient. Pronounced signs of Dystonia can lead to the difficulty in walking, swallowing food, coordination of body parts and even speech. This, however, depends on the part of the muscle that is affected.
It is nevertheless important to note that Dystonia-Parkinsonism may cause death because of the difficulty in breathing, even though the intensity of the effect of the condition varies among the population.
Since, Dystonia-Parkinsonism is a genetic condition, medical studies have not yet discovered medicines that can be used to treat it. However, according to National Institute of Neurological Disorders and Stroke (2012), understanding of the type of the conditions has helped to devise ways of managing the condition and reducing the overall effects that the condition may have had on the patient. For instance, Botulinum injections in the affected muscles have been known to reduce the muscle contractions, which in turn may reduce the subsequent problems associated with it. These include difficulty in speech, walking and swallowing.
Similarly, off-label medications such as anticholinergic agents, GABAergic agents and dopaminergic agents are used to suppress neurotransmitters that propound the effects of muscle contraction. Other management practices include deep brain stimulation and physical therapies. However, all these management practices do not heal the condition but rather reduce its effect on the patient.
According to David- Padilla & Cutiongco-de la Paz (2009), cases of Down’s Syndrome among the Filipino ethnic populations have been recorded to be on high scales as compared to other ethnic groups. Thus, Down’s syndrome is a genetically linked disorder that occurs among the Filipino to the rate of three out of 1000 as compared to other ethnic groups which stand at one per 1000 persons. It is a chromosomal anomaly where a person has 47 chromosomes instead of the normal 46, due to a splitting of chromosome 21. Unlike the Dystonia-Parkinsonism, this disorder is more prevalent among female population of Filipino ethnic groups than among their male counterparts. Notably, the scientific understanding of this condition is still remote but researchers are still combing genetic, molecular and neurobiological makeup of people who develop this condition to understand it better.
Signs and symptoms for Down’s syndrome are majorly physical and include subnormal height, broad and flattened nose bridge, an enlarged tongue fissure, stubby fingers, dry and rough skin, averted and cracked lips and an infantile genitals. Notably, these symptoms are evident in almost all cases of Down’s syndrome even though some people may exhibit either of the above signs without necessarily having the condition.
Down’s syndrome can be detected through prenatal care and therefore the parents of such a child will be prepares to be able to handle the child. As this is a genetic condition, medical innovations have not discovered treatment for the condition. However, as opposed to the earlier belief that children with the condition were completely retarded in their minds, Down’s syndrome patients can effectively be educated and arguably be able to carry out some activities successfully. Interestingly, children with the condition tend to be curious and fascinated with the trainings and education they receive, especially in mild and not so severe conditions.
Similarly, management of cases of Down’s syndrome is through physical therapies that expose the patient to the circumstances that aim at improving their mental capabilities. Since the condition affects normal development of the brain, people with the condition have lower levels of mental capacity. As such, activities that boost thinking levels and increase mental capacity are recommended in trying to manage the condition. Because of advancement in the research of the condition, better ways on how to manage the condition are recommended by genetic counselors and include taking a chromosomal checkup for parents who suspect that either of them may be a carrier of the gene that cause the abnormal chromosomal division.
In conclusion, the concentration of different genes in Philippines has led to development of genetic linked conditions that are unique to the Filipinos, and indeed to other ethnic groups around the world that have intermarried over time. Understanding the condition from scientific point of view is important in managing the condition, amid the hopes of breakthrough in the treatment of the condition sooner.