in this video we will talk about the illest and loss Engram hypermobile type this video is aimed at patients associations and healthcare professionals that want to know the basics of this ets subtype ehlers-danlos syndrome hypo mobile type is the most common of the thirteen different types it affects approximately 1 in 5,000 people worldwide thus qualifying as a rare disease the inheritance pattern is autosomal dominant each person receives horford or genetic material from the mother and the other half from the father he represented with the pink and blue chromosomes if one of the two transmitters the genetic mutation responsible for the disease to a child they will be affected as well a person with this condition has a 50% chance of transmitting it to the offspring in each pregnancy however it can also be caused by a spontaneous mutation which has not been inherited from either of the parents the genetic mutation for hypermobile ehlers-danlos syndrome has not yet been identified as a 20-19 as a result the diagnosis is entirely clinical following the criteria published in 2017 nonetheless the head study sponsored by the ehlers-danlos Society aims to find the gene associated with this type of EDS some of the signs and symptoms of hypermobile EDS are joint hypermobility which is usually generalized and affect multiple joints recurrent dislocations and subluxations of several joints soft and hyper elastic skin that stretches more than normal and is velvety to the touch pain which is often chronic and widespread mitral valve prolapse and mild RT dilatation which are diagnosed by ultrasound or other imaging tests presence of atrophic scars and stretch marks in areas such as the lower back sides stomach and chest multiple and recurrent hernias and organ collapses such as rectum uterus or bladder erected actually which refers to very long thin fingers and an increase in arm span to hate ratio called marfanoid habitus not all patients have the same symptoms and this vary in intensity depending on the person in addition the syndrome may be accompanied by other comorbid disorders such as gastroparesis and gastroesophageal reflux disease diesel to na Mia must sell disorders anxiety and depression and many more ETS can cause a wide range of disorders that affect normal functioning of the digestive tract an example of disease gastroesophageal reflux disease under normal conditions the lower esophageal sphincter remains closed and prevents food and stomach acid from moving back up into the esophagus if this finger is incompetent and does not close properly the acidic gastric contents may rise up the esophagus causing various symptoms including heartburn chest pain and even difficulty swallowing another gastrointestinal condition is gastroparesis which is a slowing down or the absence of the stomach's normal forward propelling movements and the normal conditions the stomach contracts to propel its contents to the duodenum in gastroparesis the normal peristaltic movements are diminished or totally absent and the footballer's remains too long in the stomach causing a variety of symptoms such as nausea vomiting shortly after eating early safety and abdominal bloating and recurrent abdominal pain there are also other conditions that accompany the disease such as this autonomia autonomic dysfunction is an alteration of the autonomic nervous system which is responsible for regulating the unvoluntary functions of the body such as heart rate blood pressure respiration digestion etc the most common type of this autonomia in ETS is postural orthostatic tachycardia syndrome also known as pots pots is characterized by an exaggerated increase in heart rate at the time the person stands up from a lying position symptoms include dizziness fainting heart palpitations sweating weakness and a lot more another comorbid condition is mast cell activation syndrome the body has specific allergy cells called mast cells in EM cast there is a normal number of mast cells but these are dysregulated and hyper reactive meaning they are triggered and activated by typically harmless substances in the environment as a consequence the mast cells undergo degranulation and release substances called mediators which are responsible for the myriad of anaphylaxis like symptoms including hives inflammation low blood pressure difficulty breathing and severe diarrhea in addition there are also patients that experience chronic or recurrent fatigue as well as anxiety and depression usually aggravated by the frustration and chronic pain secondary to the hypermobile EDS the diagnosis is usually difficult since the symptoms can be attributed to other diseases and there is also a great disregard of the syndrome in the medical community since it is a low prevalence disease often the patient visits multiple doctors and undergoes many tests some of them very invasive finally after many years in most cases the patient gets a diagnosis and now what currently there is no cure only palliative measures can be applied to alleviate the symptoms one of the most important factors is the regular practice of edgeless eyes and physiotherapy low-impact exercises on the joints are recommended which makes water an ideal medium for workouts and in some cases it is necessary to use drugs and orthosis some accompanying symptoms of EDS may require the use of medications such as painkillers and some unstable joints may be temporarily protected with splints it is also very important to have to support a family and friends and actively participate in leisure activities and dedicate time to the things one likes most finally ask for help if you need it follow your doctor's recommendations and seek psychological help if you need it with all this advice and a positive attitude the condition can be a little more manageable thank you very much for watching this video [Music] [Music] [Music] you