Teen Med Spot

  What is Huntington’s Disease Huntington’s disease is an often fatal genetic disease leading to the deterioration of brain cells. Major symptoms begin to appear during the patient's 30’s or 40’s stripping away quality life time. Huntington’s follows an autosomal dominant pattern, meaning there is a 50% risk of being affected for every child of an affected parent. Symptoms While symptoms vary from person to person, Huntington's disease usually progresses more quickly in people with Juvenile Huntington's disease. It is important to note that seizures are common in children but not in adults. Physical Involuntary jerking related to Huntington’s is called Chorea and impacts all muscles. - Tremors, uncontrolled shaking - Muscle contractions - Difficulty blinking or with eye movements - Loss of balance or struggling to walk - Irregular or difficulty with speaking Mental - Loss of focus - Obsessive-compulsive thoughts - Difficulty processing or learning new information - Depressi...

  Parkinson’s Disease Introduction: Parkinson’s disease is a movement condition of the nervous system that gets worse over time.Parkinson’s is important because it is a progressive neurological movement disorder and one of the fastest-growing health problems worldwide,impacting millions.This disease mainly affects older adults,individuals with specific genetic or environmental risk factors. Causes: In Parkinson's disease,neurons in your brain slowly break down and die.Many Parkinson's disease symptoms are caused by a loss of neuron that produce dopamine in the brain.Decreased dopamine leads to unusual brain activity.This causes movement issues and other symptoms of Parkinson's disease.Some people with this disease also lose norepinephrine that may contribute to symptoms such as blood pressure problems and other autonomic issues. Symptoms: Parkinson's disease symptoms are different for everyone, but the usual symptoms are tremors,bradykinesia (slow movement),muscle rigid...

  Ehlers-Danlos Syndromes (EDS) Introduction: Ehlers-Danlos Syndrome (EDS) is a group of inherited genetic disorders that impacts the body’s connective tissue and occurs because of new genetic mutations.These tissues provide support and gives elasticity to the joints, skin, organs, and blood vessels.EDS can affect anyone because it is an inherited genetic condition.Unfortunately, there is currently no cure at this moment, but there are medications that can help with the pain or blood pressure. Understanding this disease is important because early diagnosis can reduce the risk of injuries and improve long-term management,but it can’t completely prevent irreversible damage. Causes: EDS is mostly caused by changes in specific genes that impact the connective tissue.Different types of EDS are linked to different genes.Genetic changes can affect collagen or the proteins involved in forming and maintaining connective tissue.This disease is mostly inherited,but sometimes a gene change can...

 Turner syndrome is a rare genetic condition that affects females only. It occurs when one of the two X chromosomes is completely or partially missing. Because females typically have two X chromosomes (XX), having only one complete X chromosome affects growth, development, and the function of several organs. Who does it affect?   Females only  Occurs in approximately 1 in 2,000–2,500 live female births  The condition is present from birth, although some girls are not diagnosed until childhood, adolescence, or even adulthood. What causes Turner syndrome? Turner syndrome is caused by a random error during the formation of reproductive cells or in early fetal development. It is not inherited from a parent. There are three main genetic forms:  Monosomy X – One entire X chromosome is missing (most common).  Mosaic Turner syndrome – Some cells have two X chromosomes, while others have only one.  Partial X chromosome deletion – Part of one X chromosome is missing or rearranged....

 Overview Pemphigus vulgaris is a non-communicable auto-immune disease, that occurs when the immune system attacks healthy, unproblematic proteins that are used for skin regeneration. This paper will go over the causes, symptoms, and treatment for PV. What is Pemphigus vulgaris (PV)? As many other autoimmune diseases, Pemphigus vulgaris is extremely uncommon. 1-5 cases are reported per million people. Individuals diagnosed with PV will first see symptoms in their mouth and throat, as blisters and sores will begin to form. The oral manifestations stem from the immune system incorrectly sending autoantibodies to fight off structural proteins called, desmoglein 3, which are responsible for maintaining the integrity of skin and mucus membranes. When desmoglein 3 is met with these autoantibodies, skin cells start to separate and fill with fluid or pus, which forms the painful blisters and lesions. Mucus membranes are primarily in the mouth, nose, and respiratory region, which is why the...

Introduction Medicine has transformed countless lives through scientific interventions, yet thousands of diseases continue to receive insufficient public recognition due to their rarity. Among these is Paroxysmal Nocturnal Hemoglobinuria (PNH) , a rare acquired blood disorder that affects the body's ability to produce healthy blood cells and protect them from destruction. Although its prevalence is low, PNH can lead to serious complications, including chronic hemolysis, bone marrow failure, kidney damage, and life-threatening blood clots if left undiagnosed or untreated (Oliver & Patriquin, 2023). PNH develops due to an acquired mutation in the PIGA gene within hematopoietic stem cells, resulting in the absence of protective proteins that typically shield blood cells from the body's complement system. Without these proteins, red blood cells become vulnerable to premature destruction, leading to a wide range of symptoms that often interfere with a person's lifestyle. W...