Also known as DMD, dystrophinopathy, and pseudohypertrophic myopathy, Duchenne muscular dystrophy is one of the most frequent forms of congenital genetic conditions. This particular form of muscular dystrophy affects the gene that is in charge of transcribing the protein known as dystrophin. Dystrophin is one of a few proteins that make up our muscles and in Duchenne’s muscular dystrophy, the protein is completely missing.
Month: September 2021
Myotonic Dystrophy Awareness: September 15th is myotonic dystrophy (DM) awareness day, so let’s take a dive into this topic and learn about myotonic dystrophy. Myotonic Dystrophy is also known as DM1 or DM2, proximal myotonic myopathy (PROMM), Steinert Disease, dystrophia myotonica types one and two.
Muscular Dystrophy is a group of medical conditions that affect the muscles of the body in various ways, depending on the sub-group of dystrophies. All of the muscular dystrophy types contribute negatively to health muscle development and maintenance. Most with muscular dystrophy will lose their ability to grow and/or maintain muscles that are required for activities of daily living.
Teaching yourself how to be able to relax, accept, distract, and self-sooth. It is a huge undertaking, but you can do it. We do not graduate primary school in one sitting. We do not learn division in one day—we begin by learning what numbers actually are. Learning how to rest, accept situations, distract ourselves, and/or sooth ourselves is no different. Little, tiny steps and practice is required. Just keep practicing until it becomes second nature.
This Saturday is the second Saturday in September, which means that it is World First Aid Day! First aid is an important life skill that everyone should have — how to help the sick or injured in an emergency. We’ll discuss first aid here briefly and talk about first aid kits. The Red Cross has a free first aid app that I encourage everyone I know to download so that they have it handy. You can download the app on your smartphone here.
Fetal alcohol spectrum disorders (FASD) is a collection of physical, cognitive, and behavioral problems that can show up in children who were exposed to alcohol while in utero. FASD may present physically as a smooth philtrum—the are between the nose and upper lip which ascends from the cupid’s bow, a smaller than average head size, low body weight, shorter stature, small eyes, a thin upper lip, small palpebral fissures, the presence of epicanthal folds, some ear anomalies, a small and upturned nose, and/or a low nasal bridge.
Let’s work on some distress tolerance skills. You might find that you have coped with stressors in unhealth ways. This is not a flaw in yourself, this is just a symptom of not having been given tools to help. Let’s first begin by asking you a few questions:
What kind of self destructive coping strategies do you find yourself engaging in? Do you sit in your thoughts, rehashing painful mistakes and problems from the past or potential pain and problems of the future?
As you could probably imagine, polycystic kidney disease is a genetic disorder that affects the kidneys by way of multiple cysts. Slowly, the cysts overtake healthy kidney tissue and can cause irreversible damage. As the tissue becomes damaged, kidneys lose their functionality and ability to filter waste from our blood. Polycystic Kidney Disease (PKD) can develop cysts on other internal organs, including the liver — another powerhouse of filtration for our bodies.
Let’s start off by defining what leukemia is. It is a cancer that affects the areas of our body in charge of producing blood cells, namely bone marrow and the lymphatic system. Often, it will involve white blood cells, which are our infection fighting cells. When leukemia is present, the amount of white blood cells may increase, but the quality of those cells are diminished, making the person prone to severe infections. Some types of leukemia can cause reduced platelets or reduced functionality of platelets, which can cause a person to be prone to bleeding disorders, which we will talk about here.