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MARFAN SYNDROME Group 4 Castaneda, Ducos, Ferrer, Kuizon, Poa, Tayag | 4APS  OUTLINE: Disorder background Epidemiology, Statistics Discussion on the principle of the specific inheritance and mutation Disorder features (signs and symptoms) Available Treatm...

MARFAN SYNDROME Group 4 Castaneda, Ducos, Ferrer, Kuizon, Poa, Tayag | 4APS  OUTLINE: Disorder background Epidemiology, Statistics Discussion on the principle of the specific inheritance and mutation Disorder features (signs and symptoms) Available Treatment/Management Recommendations to peers (Group reflection) 10-item MCQ quiz WHAT IS MARFAN SYNDROME? A disorder that is inherited from a parental generation that affects the connective tissue of a person Affects mostly the eyes, heart, blood vessels, and skeleton Cause is from a defect in the FBN1 gene that creates proteins responsible for making connective tissues called fibrillin Offspring has a 50-50 percent chance of inheriting the defective gene from either parent French pediatrician Antoine- Bernard Marfan in 1896 first described the skeletal abnormalities which complicated the connective Antoine-Bernard Marfan Michael Phelps tissues of a person Famous people with Marfan Syndrome are Osama Bin Laden, Michael Phelps, and Abraham Lincoln Osama Bin Laden Abraham Lincoln EPIDEMIOLOGY, STATISTICS As Marfan syndrome is an One parent with autosomal dominant Without Marfan syndrome = With 50% 50% genetic disorder, the only 50% chance of risk factor is having at inheritance Without 25% least one parent who also both parents with has the disorder. Marfan syndrome 25% of cases present results = 75% chance sporadically due to de of inheritance novo mutations With 75% EPIDEMIOLOGY, STATISTICS Infected Population (CONTINUED) --- One of the most common single-gene malformation syndromes 1 in 3000 to 5000 individuals has --- Lack of nationwide awareness, family history, Marfan syndrome and medical access has delayed diagnosis (Salik and Rawla, and treatment of Marfan syndrome in the 2023) Philippines (Toledano et al., 2022) Population 3000 SPECIFIC INHERITANCE AND MUTATION Marfan syndrome is a genetically inherited disease (autosomal dominant) linked to the mutation of the fibrillin-1 (FBN1) gene on chromosome 15 AUTOSOMAL DOMINANT INHERITANCE One way a genetic trait or condition can be inherited from parent to child. One copy of a mutated gene from a parent can cause the genetic condition. A child whose parent has the mutated gene has a 50% chance of inheriting that gene. Men and women have same likelihood to inherit the mutation. SPECIFIC INHERITANCE AND MUTATION Responsible for elasticity in connective tissue and are key components in the stability of connective tissue. modified encoding of glycoprotein fibrillin. loss of function = modified FBN-1 gene causing deficiency of fibrillin or deletion, or the non- production of fibrillin. SPECIFIC INHERITANCE AND MUTATION Microfibrils - glycoprotein providing strength and stability to tissues that undergo constant stretch and recoil AORTIC MANIFESTATIONS Fibrilin 1 Rigidity of aortic walls worst case scenario: aortic aneurysm, aortic dilation, aortic dissection.  SKELETAL MANIFESTATIONS Fibrilin 1 Transforming Growth Factor beta abnormal skeletal growth disrupted osteogenesis and osteoclastisity OCULAR MANIFESTATIONS Fibrilin 1 reduced contratile force in the eye/cornea ectopia lentis axial myopia, decreased corneal thickness, retinal detachment  DISORDER FEATURES (SIGNS AND SYMPTOMS) Marfan syndrome is characterized by several distinctive features, which may include: Slender body frame High, arched roof of Unusually long proportion the mouth of the arms, legs, or Heart murmurs fingers Severe nearsightedness Breastbone that either Abnormally curved protrudes outward or spine curves inward Flat feet  DISORDER FEATURES (SIGNS AND SYMPTOMS)  AVAILABLE TREATMENT/MANAGEMENT Marfan syndrome has no known cure; medical professionals focus treatment on relieving symptoms and avoiding implications or other issues. Physicians may recommend the Additional therapies could be: following drugs: 1. braces to prevent the deterioration of 1. Angiotensin receptor blockers or spinal curvatures. beta blockers 2. Contacts or glasses to help with vision 2. Anti-inflammatory drugs. correction. 3. Physical or occupational therapy to These drugs can inhibit the aorta's help strengthen muscles unusual growth. 4. Lifestyle changes  RECOMMENDATIONS BEA FERRER Marfan syndrome may be a rare disease, but it is important to learn about it not only to keep yourself informed but also to help other people. It is rare, but it isn’t impossible to have. If someone you know may be displaying signs and symptoms of this condition, especially if they are still young, you must immediately tell them to get their health checked to avoid severe complications as they get older. Despite having no direct cure, it may help alleviate the other conditions that come along with this syndrome. JOI CASTANEDA In addition to having long limbs, a tall build, and flexible joints, people with this syndrome may also have major heart problems. To give assistance and appropriate care to others with this illness, it is important to fully understand Marfan syndrome. Many people can lead active, fulfilling lives with the correct care. We learn to respect one another and have empathy for persons with health issues as a result of this illness.  RECOMMENDATIONS YUAN GABRIEL KUIZON When it comes to a disorder that will hamper you your entire life, it’s important to establish a support group with others who are going through similar experiences. In a support group, you can help each other with your own unique insights and share tips for better managing your disorders. It can be life-saving to form bonds with others walking a similar path as you and seeking inspiration from how they deal with their problems. ANDREW SIMON POA Marfan Syndrome is incurable and debilitating, hindering normal physical function. Since this genetic disorder is out of the individual’s control, we have the knowledge to take responsibility and support those who have it. If you know someone who has the disease and you do not have knowledge, do the research as it helps you and them. Empathy is a strong force of connection between individuals, so lets use that for good.  RECOMMENDATIONS YURIS JAIME DUCOS Considering that Marfan Syndrome is a physical and genetic disorder, mental health implications are also to be considered as articles cited that people with Marfan Syndrome experience detrimental consequences not limited to their physical health, but their mental health as well. These consequences have an affect towards their life satisfaction, quality of life, work participation, etc. I highly recommend also taking a closer look into the mental health of people with Marfan Syndrome to further help them throughout their journey. MARCO LOUIS TAYAG Genetic disorders often influence a person’s mind more than their physical alterations to the body. It is equally important to understand what the person is going through both body and mind, especially those close to the person affected the most. Some can live through their entire lives with little to no effect on their minds despite having the same physical complications or worse than others because they have the proper support structure of people around them that keeps them together. In short, regardless of physical differences, we are still humans and deserve both love and respect as much as others.  REFERENCES: Marfan Syndrome: Diagnosis, Treatment, and Steps to Take. (2023, October 01). National Institute of Arthritis and Musculoskeletal and Skin Diseases. https://www.niams.nih.gov/health-topics/marfan- syndrome/diagnosis-treatment-and-steps-to-take Marfan syndrome: MedlinePlus Genetics. (n.d.). https://medlineplus.gov/genetics/condition/marfan- syndrome/ Marfan syndrome - Symptoms and causes. (2024, March 22). Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782 Pregnancy and Marfan Syndrome. (2013, September 22). The Marfan Foundation. https://marfan.org/expectations/pregnancy/ Salik, I. & Rawla, P. (2023) Marfan Syndrome. https://www.ncbi.nlm.nih.gov/books/NBK537339/ Toledano, B.R., Lazo, R., Carandang, R.L., & Macapagal, R. (2022). The Diagnosis, Treatment, and Outcomes of Filipinos with Marfan Syndrome. Philippine Journal of Internal Medicine, 60(1), 37-43. https://www.researchgate.net/publication/359711844_The_Diagnosis_Treatment_and_Outcomes_of_Filipinos_ with_Marfan_Syndrome Verstraeten, A., Alaerts, M., Van Laer, L., & Loeys, B. (2016). Marfan Syndrome and Related Disorders: 25 years of gene Discovery. Human Mutation, 37(6), 524–531. https://doi.org/10.1002/humu.22977 ALBINISM Presented By: Group 1 Carpio, Coleen Dumlao, Alecsandra Jundarino, Jonabelle Reyes, Angelo Sampang, Alec Villanueva, James GENETICS APS4 TABLE OF CONTENTS: Disorder Background Epidemiology and Statistics Discussion on the Principle of the Specific Inheritance and Mutation Disorder Features Available Treatment/Management  DISORDER BACKGROUND ALBINISM From the Latin word “Albus” which means “white”. Is a collection of heritable diseases characterized by diminished or absent melanin in ectoderm-derived tissues (most notably the skin, hair, and eyes), resulting in a distinct decrease in skin pigmentation. DISORDER BACKGROUND ALBINISM Two Major Categories Oculocutaneous Ocular Albinism Albinism (OCA) (OA) hypopigmentation only affects the in the skin, hair, visual pathway and eyes, as well as ocular problems  DISORDER BACKGROUND ALBINISM Historical Background The earliest recorded description of albinism may be found in the Book of Enoch, where Noah is described as having snow-white skin, hair, and dazzling eyes that illuminate the house. Another very early account is from Pliny a Roman author and naturalist mentioned people with albinism-like traits in his writings in the first century AD. Sir Archibald Edward Garrrod identified albinism as an inborn error of metabolism in the early 20th century, linking it to a lack of enzyme function that affects melanin production.  DISORDER BACKGROUND ALBINISM Historical Background Albinism has historically been seen ambivalently - it is sometimes thought to be related to the divine, while at other times it is deemed queer, hideous, and ill-omened. In the past, they may have been regarded to have a relationship with the sun, moon, or stars and treated with reverence. Today, they are mainly shunned, ridiculed, or even hunted down for the purpose of practicing witchcraft.  EPIDEMIOLOGY AND STATISTICS Albinism is a hereditary disorder characterized by impaired melanin synthesis, which gives skin, eyes, and hair color. Individuals with albinism typically have an ashen complexion, red to brown hair, and light blue or brown eyes. Their low melanin levels increase their risk of skin cancer and vision impairment. OCA is inherited in an autosomal recessive form with a: chance of a dormant 25% chance of a defect- 25% chance of OCA carrier in each pregnancy, free offspring symptoms OA is usually passed on via an X-linked inheritance pattern, affecting genders differently. Males have only one X chromosome, while females with a mutated gene on one of the two X chromosomes may still have normal vision.  EPIDEMIOLOGY AND STATISTICS 50 The incidence of albinism is 1 in 20,000 persons 40 worldwide, compared with a rate of 1 in 37,000 in the United States. OCA1 is the most commonly found subtype in Caucasians, and accounting for 30 50% of all cases worldwide. OCA2 is responsible for 30% of cases worldwide and is more common 20 in Africa. OCA3 affects 3% and OCA4 affects 17% of all cases globally.6 OCA5-8 are rare forms. HPS 10 is a common type of albinism in Puerto Rico, but the disorder is rare in other parts of the world 0 OCA1 OCA 2 OCA 3 OCA 4 DISCUSSION ON THE PRINCIPLE OF THE SPECIFIC INHERITANCE AND MUTATION Oculocutaneous Albinism In all types of OCA, albinism is passed on in an autosomal recessive inheritance pattern If both parents carry the gene, there's a 1 in 4 chance that their child will have albinism and a 1 in 2 chance that their child will be a carrier DISCUSSION ON THE PRINCIPLE OF THE SPECIFIC INHERITANCE AND MUTATION Ocular Albinism Most types of OA are passed on in an X-linked inheritance pattern. When a mother is a carrier of an X-linked type of albinism, her daughters has a 1 in 2 chance of becoming a carrier. her sons has a 1 in 2 chance of having albinism  DISCUSSION ON THE PRINCIPLE OF THE SPECIFIC INHERITANCE AND MUTATION OCA1 OCA3 Mutated TYR Mutated TYRP1 TYR: Produces an enzyme TYRP1: Produces an enzyme tyrosinase that converts tyrosine that stabilizes tyrosinase and into melanin determines the shape of melanosomes OCA2 OCA4 Mutated OCA2, MC1R Mutated SLC45A2 OCA2: Creates p protein that acts as a transport SLC45A2: Transports system and regulates pH activity in melanosome molecules needed by the MC1R: Creates a protein for controlling the type melanosome to function of melanin produced by melanocytes  DISCUSSION ON THE PRINCIPLE OF THE SPECIFIC INHERITANCE AND MUTATION OCA5 OCA7 Not identified gene Mutated C10orf11 C10orf11: Aids in differentiating melanin biosynthesis OCA6 OCA8 Mutated SLC24A5 Mutated DCT SLC24A5: Ion transporter in DCT: Protects melanocytes melanogenesis from Reactive Oxygen Species (ROS) damage  DISCUSSION ON THE PRINCIPLE OF THE SPECIFIC INHERITANCE AND MUTATION OA1 Mutated GPR143 GPR143: Creates a protein that is responsible for regulating the growth of melanosomes DISCUSSION ON THE PRINCIPLE OF THE SPECIFIC INHERITANCE AND MUTATION Mutation Types Missense: substitution of a nucleotide for another nucleotide Nonsense: change in sequence leads to the formation of stop codon Splice: disrupts sequence that affects both exons and introns Deletion: loss of one or more nucleotide Insertion: nucleotides are added to the sequence Frameshift: deletion or insertion occurs Loss-of-Function: frameshift and stop variants occur Duplication: copied DNA piece  DISORDER FEATURES What are the signs and symptoms of albinism? Some children with albinism are born with: Pinkish-white skin and white hair. Their eyes are usually light gray, blue or hazel, although they can look pink in the light.  DISORDER FEATURES There are two (2) main types of Albinism: Oculocutaneous Albinism — the hair, skin and eyes are all affected. Ocular Albinism — is much less common, and involves only the eyes, while skin and hair color appear similar to that of family members.  DISORDER FEATURES People with albinism usually have poor vision. Glasses can help, but some have poor vision even with glasses. Several eye conditions can affect people with albinism including: Nystagmus — Rapid involuntary movement of the eyes Photophobia — which is sensitivity to bright light and glare Strabismus — Misalignement of eyes Refractive errors — Eye errors relating to the shape of one's cornea  DISORDER FEATURES Foveal Hypoplasia It is when the foveal pit either fails to develop, or does not completely develop Allows the light to be sensed without any dispersion or loss Absence of the foveal pit and the loss of normal thinning of the retina Optic Nerve Misrouting Majority of the optic nerve fibers crossing at the chiasm Reduced or delayed signal in the ipsilateral hemisphere.  AVAILABLE TREATMENT/MANAGEMENT Vision Care Genetic Counseling Regular Eye Exams Family Planning Support Corrective Lenses and Low- Vision Aids Skin Protection Additional Support Sunscreen and Protective Occupational Therapy Clothing Support Groups and Dermatological Check-Ups Educational Resources  RECOMMENDATION People with albinism are just like any other person treat them how you would treat anyone else they just have a little less melanin In the academic setting, be considerate and inclusive of affected individuals, e.g. enlarged text in presentations and writings, and close proximity in seating arrangement Educate oneself about albinism and its respective impacts on those affected people  REFERENCES Albinism historical perspective - wikidoc. (n.d.). https://www.wikidoc.org/index.php/Albinism_historical_perspective Ahsan, H., Shamsi, S., & Khatun, M. (2021). Skin cancer risk in albinism: A review. Journal of Dermatological Treatment, 32(4), 451-456. https://doi.org/10.1080/09546634.2020.1761317 Cohen, R. A., Kessler, M. A., & Mather, D. C. (2020). Visual impairment in albinism: A comprehensive review. Ophthalmology, 127(3), 321-329. https://doi.org/10.1016/j.ophtha.2019.08.019 Deyabat, O. A., MD. (n.d.). Albinism: Background, pathophysiology, epidemiology. https://emedicine.medscape.com/article/1200472-overview?form=fpf Federico, J. R., & Krishnamurthy, K. (2023, August 14). Albinism. StatPearls - NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK519018/ Hirschler, J. H., Ramos, S. D., & Slater, R. (2023). The importance of education and advocacy for individuals with albinism. American Journal of Public Health, 113(7), 1045-1051. https://doi.org/10.2105/AJPH.2023.306238 Hilton, J. L. (2021). Albinism in the ancient Mediterranean world. Journal for the Study of Religion, 34(1), 1–28. https://doi.org/10.17159/2413-3027/2021/v34n1a1 Health Direct. 2024. https://www.healthdirect.gov.au/albinism Krause, A., Keil, H., & Bartsch, O. (2022). Genetic counseling for families affected by albinism: Challenges and solutions. Genetics in Medicine, 24(5), 1050-1057. https://doi.org/10.1016/j.gim.2021.10.014 Kromberg, J., & Manga, P. (Eds.). (2018). Albinism in Africa: Historical, geographic, medical, genetic, and psychosocial aspects. Academic Press.  REFERENCES Aamir, A., Kuht, H. J., Grønskov, K., Brooks, B. P., & Thomas, M. G. (2021). Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update. European Journal of Human Genetics, 29, 1577–1583. https://doi.org/https://doi.org/10.1038/s41431-021-00809-w Cleveland Clinic. (2024, August 12). Albinism. Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/21747-albinism Denat, L., Kadekaro, A. L., Marrot, L., Leachman, S. A., & Abdel-Malek, Z. A. (2014). Melanocytes as Instigators and Victims of Oxidative Stress. Journal of Investigative Dermatology, 134(6), 1512–1518. https://doi.org/https://doi.org/10.1038/jid.2014.65 Jenkins, N. C., & Grossman, D. (2013). Role of Melanin in Melanocyte Dysregulation ofReactive Oxygen Species. BioMed Research International, (1), 1–3. https://doi.org/https://doi.org/10.1155/2013/908797o Medline Plus. (2007, July 1). GPR143 gene. Medline Plus. https://medlineplus.gov/genetics/gene/gpr143/ Medline Plus. (2018, August 1). MC1R gene. Medline Plus. https://medlineplus.gov/download/genetics/gene/mc1r.pdf Medline Plus. (2022, May 13). OCA2 gene. Medline Plus. https://medlineplus.gov/genetics/gene/oca2/ Medline Plus. (2023, March 17). Oculocutaneous albinism. Medline Plus. https://medlineplus.gov/genetics/condition/oculocutaneous-albinism/#inheritance Medline Plus. (2007a, March 1). SLC45A2 gene. Medline Plus. https://medlineplus.gov/genetics/gene/slc45a2/ Medline Plus. (2007b, March 1). TYRP1 gene. Medline Plus. https://medlineplus.gov/download/genetics/gene/tyrp1.pdf Medline Plus. (2007c, March 1). TYR gene. Medline Plus. https://medlineplus.gov/genetics/gene/tyr/ National Library of Medicine. (2024, October 28). SLC24A5. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gene? Cmd=DetailsSearch&Term=283652 Newman, T. (2023, November 10). Everything you need to know about albinism. Medical News Today. https://www.medicalnewstoday.com/articles/245861#causes Saleha, S., Khan , T. A., & Zafar, S. (2016). MC1R gene variants involvement in human OCA phenotype. Open Life Sciences, 11(1), 142–150. https://doi.org/https://doi.org/10.1515/biol-2016-0020 Schiaffino, M. V. (2010). Signaling pathways in melanosome biogenesis and pathology. The International Journal of Biochemistry & Cell Biology, 42(7), 1094– 1104. https://doi.org/https://doi.org/10.1016/j.biocel.2010.03.023 Sherr, E. H., & Fernandez, L. (2013). Chapter 31 - Lissencephalies and Axon Guidance Disorders. Neural Circuit Development and Function in the Brain. https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/albinism Vernon, H. J. (2021, September 6). DCT. Online Mendelian Inheritance in Man. https://www.omim.org/entry/191275? search=%22dct%20gene%22&highlight=%22dct%20gene%22 Wiriyasermkul, P., Moriyama, S., & Nagamori, S. (2020). Membrane transport proteins in melanosomes: Regulation of ions for pigmentation. Biochimica et Biophysica Acta (BBA) - Biomembranes, 1862(12). https://doi.org/https://doi.org/10.1016/j.bbamem.2020.183318 THANK YOU! Presented By: Group 1 Carpio, Coleen Dumlao, Alecsandra Jundarino, Jonabelle Reyes, Angelo Sampang, Alec Villanueva, James GENETICS APS4  Sex linked XDP (X-linked Dystonia Parkinsonism) X-LINKED DYSTONIA OF PANAY Biswas, Casilag, Catan, Ravana, Orense  VIDEO https://youtu.be/ZxYPkWyio ls?si=hjWf3ra_37WnxD0Y  DISORDER BACKGROUND Sex linked dystonia parkinsonism (XDP), also referred to as “lubag” in American literature, was described in 1975 occurring endemically in Panay, Philippines. It is characterised by severe, progressive torsion dystonia, which dominates the first 10 to 15 years of the illness and is associated or replaced by parkinsonian features in the later years of life.  DISORDER BACKGROUND It was first noted in the 1970s, when Dr GH Viterbo, of Roxas City, Capiz (a province of Panay) referred five of the six cases labelled as “dystonia musculorum deformans” to the neurology section of the Philippine General Hospital. This initiated an epidemiological survey, which resulted in the first paper published in 1976. it was noted that some patients had parkinsonian features and relatives with parkinsonism. Lubag means “to shake” or “to tremble”. This name reflects the characteristic movement symptoms, such as tremors which is associated with the syndrome. DISORDER BACKGROUND  X-LINKED Refers to the mode of inheritance of a disorder. X- linked conditions are typically associated with genes located on the X chromosome. DISORDER BACKGROUND  DYSTONIA PARKINSONISM Refers to symptoms similar to those seen in Parkinson’s disease including tremors, rigidity, and impaired balance DISORDER BACKGROUND  PARKINSONISM Refers to a movement disorder characterized by involuntary muscle contractions, leading to abnormal postures or repetitive movements. DISORDER BACKGROUND  EPISTEMOLOGY This disorder primarily affects men than women. Geographic Isolation Panay Island is one of the central islands in the Philippines Cultural & Genetic Factors The genetic predisposition to XDP within these communities may have been reinforced over time.  EPISTEMOLOGY Thought to be associated with emotional stress, traumatic events, and social issues within the society Common triggers: family or social disputes financial stress, major life changes; with many people reporting episodes after traumatic events or extended stress  TATA-BINDING-PROTEIN ASSOCIATED FACTOR 1 (TAF1) This gene is responsible for XDP and it provides instructions for making part of a protein called transcription factor IID (TFIID). This protein is active in cells and tissues throughout the body, where it plays an essential role in regulating the activity of most genes. PRINCIPLES TATA-BINDING-PROTEIN ASSOCIATED FACTOR 1 (TAF1) The TAF1 gene is part of a complex region of DNA known as the TAF1/DYT3 multiple transcript system This region consists of short stretches of DNA from the TAF1 gene plus some extra segments of genetic material near the gene. The mutations in TAF1 result in dysfunction of this protein, contributing to the development of XDP. PRINCIPLES TATA-BINDING-PROTEIN ASSOCIATED FACTOR 1 (TAF1) Several changes in the TAF1/DYT3 multiple transcript system may have been identified in people with X-linked dystonia- parkinsonism PRINCIPLES  MUTATIONS IN THE TAF1 GENE IN XDP This defect leads to the eventual death of these cells, particularly in areas of the brain called the caudate nucleus and putamen. Caudate nucleus Mutations lead to build- up of toxin protein Putamen aggregates in affected brain areas that contribute to motor and on-motor symptoms seen in XDP PRINCIPLES Autosomal dominance /recessive - single gene disease - occurs in the non-sex chromosomes (not X or Y) - "autosomes" Complete Dominance - only 1allele in the genotype is seen in the phenotype Co-dominance - both alleles in the genotype are seen in the phenotype. Incomplete dominance - A mixture of alleles in the genotype is seen in the phenotype. PRINCIPLES  X-LINKED RECESSIVE XDP This condition is inherited in an X-linked recessive pattern. Males - there is a higher incidence of symptomatic individuals since they possess only one (X) chromosome and if they inherit the mutated gene, they will express symptoms. Females - with two (X) chromosomes are carriers for the mutated gene but show mild or no symptoms at all because the second healthy X chromosome compensates. PRINCIPLES Affected Males Due to the absence of a second X chromosome with a healthy gene, they often exhibit the characteristic symptoms of XDP. Carrier Females They inherit one mutated X chromosome from a carrier parent and one normal X-chromosome from the other parent. Unaffected Males Inherit a normal X chromosome from their carrier mothers and a Y chromosome from their fathers. PRINCIPLES  Dystonia Parkinosnism Dystonia is a neurological disorder Parkinson’s disease is a characterized by involuntary muscle neurodegenerative disorder primarily contractions that cause repetitive or affecting movement and is twisting movements. It often leads to characterized by the progressive loss of abnormal postures and can affect dopamine-producing neurons in the various body parts, such as the neck, brain, particularly in the substantia face, or limbs. nigra region. DISORDER FEATURES  Age: Symptoms typically begin in adulthood (30s-40s) onsets can vary Dystonia Symptoms: painful, impairs movements and postures Parkinosnism Features: may develop parkinsonism, which includes symptoms like bradykinesia (slowness of movement), rigidity, resting tremor, and postural instability. DISORDER FEATURES  Origin: XDP is associated with a mutation in the TAF1 gene Neuropsychiatric symptoms: may also experience cognitive and psychiatric symptoms DISORDER FEATURES  Signs and Symptoms Bradykinesia Truncal Dystonia Resting Tremors Limb Dystonia Rigidness Sever Shuffling Gait Postural Instability Oculomotor Abnormalities Blepharospasm Cognitive Impairment Cervical Dystonia MPD and Anxiety Disorders* Oromandibular Dystonia DISORDER FEATURES  Lubag Syndrome Manifestation: https://www.youtube.com/watch?v=7WF- LFI_VSM DISORDER FEATURES  TREATMENT There is currently no cure for XDP. Medications that help manage its symptoms and temporary relief include the following: Carbidopa/Levodopa: Used to relieve parkinsonism symptoms like tremors and rigidity by boosting dopamine levels. Anticholinergic drugs: Sometimes prescribed to help with muscle control issues. Tetrabenazine and Zolpidem: These can help with managing generalized dystonia.  TREATMENT Therapies Botulinum Toxin Injections: Helpful for treating focal dystonia, reducing involuntary muscle contractions in specific body areas. Deep Brain Stimulation (DBS): This surgical option targets the globus pallidus area of the brain to control severe dystonia and can offer significant symptom relief for some patients  RECOMMENDATIONS A more extensive investigation is necessary to provide exact prevalence figures and a better understanding of Lubag syndrome in Panay. It would significantly improve the understanding and treatment of the sickness, supporting local health practitioners in gathering data that reflects the true nature of the syndrome and delivering the necessary and appropriate treatments for the condition. Furthermore, greater care and information should be offered about the common triggers and long-term implications that the condition may have on an individual's mental health, as well as the stigma connected with it.