A two year old male child was admitted with involuntary muscle contractions (dystonia), involuntary

A total of 35 children were enrolled into the current study; 15 children had a medical illness, 14 children were siblings of a child with a medical and/or chronic illness, and 6 children were healthy and had healthy family members. The children with medical illnesses and the

While there is no known cure, scientists are certain of the genetic make-up that causes muscular dystrophy, an inherited faulty gene. This gene can be inherited in one of four ways: X-linked or sex-linked recessive, when a man with X-Linked muscular dystrophy has children, Autosomal Recessive Inheritance, and Autosomal Dominant Inheritance.

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

V.S’s mother died in 2011, at the age of 73 from a myocardial infarction, and her father died at the age of 89, from complications from Alzheimer’s. Her husband passed in 2008; he lived through a ruptured aortic aneurysm, and then died from sepsis following a hernia surgery. She has 8 siblings, all living. She has three children (ages 30, 40, and 42) who are all healthy. She has five grandchildren, and one great grandchild. There is no known family history of hypertension, diabetes, or cancer. See genogram that follows…

There are treatments to make living with this disorder a little easier. Babies born with this need immediate and intensive care in the NICU. Babies born with this are less able to maintain a safe body temperature. They are more prone to fluid loss, dehydration, and life threatening infections. In their first week of life to have any chance of survival they may need: intravenous tubes to deliver fluids and nutrients. They also need monitoring of electrolytes and sodium, lubrication for their eyes if they’re forced open. With having this disorder they have a hard time keeping their body temperatures normal, which means they need help in doing so… They need to be in a high humidity incubator to even maintain a normal body temperature and prevent cracks in their skin. The Doctors can prescribe antibiotics so the infection does not spread any further. Doctor can also prescribe retinoids which is any type of cream to accelerate the shedding of the skins scales. It is an ongoing treatment of keeping the skin moisturized and avoid more scaling or cracking that could lead to more infection. How long do babies diagnosed with this disorder

Well every beginning must have its end. Now let's not become pessimistic because life is beautiful.With proper treatment he can live a long time and a very fulfilling life and experience ,the beauty that comes along with it. ALD should not make you feel that death is upon your child but rather to enjoy every minute they are by your side.

Duchenne Muscular Dystrophy is the most common form of MD that usually affects children. It has accounted for over 50% of all muscular dystrophy cases, occurring at a frequency of 1 in 3,500 new born males (NCBI 2016). Boys are the main victim of this disease, however symptoms can be shown and experienced by girls and women who carry the defective DMD gene (NIH 2016). It is a terrible disease that is progressive and has a rapid onset. The DMD gene is big in size which makes it an easy

     The course that this disease takes is highly unpredictable in the first few years. This disease can be mild with few symptoms or it can be serious affecting the child’s life on a daily basis. Symptoms can worsen and disappear without clear reason. Sometimes a pattern for the acute and remission phases can be established, but not always.

According to Sullivan, MacSharry, Hunt, and Murphy (2016), there are "numerous environmental factors, along with many different susceptibility genes" that have a role related to the pathogenesis and remodeling that occurs in this hyperresponsive disease. J. D. did have a genetic component with the potential gene that could lead to susceptibility (expressed in his sister). Moreover, the severity of his disease can be influenced by his level of "obesity, levels of activity, and exposure to secondhand smoke" (Yawn, Rank, Bertram, & Wollan, 2015). Therefore, it becomes critical to control his modifiable triggers and risk factors associated with his disease which included weight reduction, avoidance of alcohol, and secondhand

Myotonic dystrophy, unlike other types of muscular dystrophy, does not show many symptoms in childhood and allows people to be fairly independent for the most part of their life. However, when symptoms of MD do start to develop a patient may have to use a wheelchair, when the person is a child, enroll in special education programs, take insulin supplements, as well as other medications.

preschoolers in the United States are recognized as having it each year. The United Cerebral

The patient presents with probable muscle tension dysphonia (CAPE-V 62/100). She is characterized by hoarseness and roughness in her voice. Ms. Pepper’s forced vital capacity was 2900 cc ml. The average vital capacity for women is between 3000-4000 cc ml. Ms. Pepper’s vital capacity is below the normal. Ms. Pepper predicted MPT was 17.11 seconds. According to Awan & Ziminsky-Ammon (1996), the average mean for MPT should be about 19.70 (SD of 5.79) Reduced MPT might indicate either a problem with reduced respiratory capacity or control and/or loss of air through incomplete glottal closures. However, the increased tension may require excessive levels of subglottal air to initiate and maintain phonation so someone may run out of air quicker and/or

Having a baby with Leukodystrophy is a painful thing that any parents could face. As a hardest personal story that i have had in my live was when my sister discover that her daughter has been suffering from a rare genetic disease. It starts with simple strange eye movements that we hadn't care that much about it. However, the feeling of the mother was not confident. She chose an appointment with a doctor to check her daughter's eyes, and after many examinations the doctor discover that she was suffering from Leukodystrophy. Rana passed away on 2016 September 12. However, diagnosing Leukodystrophy early will help to decelerate the spreading of the disease. Despite the fact that Leukodystrophy diseases are hard to detect, however; parents notice, a magnetic resonance imaging test, and blood testing help to diagnose

MLD is commonly associated with infants as most cases occur while the patient is young, typically from 12-20 months post birth. However, Juvenile and late onset MLD also exists in which symptoms arise later on in life. The time of onset depends on the type of mutation the individual has. Individuals with MLD suffer from demyelination in the central as well as peripheral nervous system, the degradation of myelin cause nerve

This can be passed down from the father but it’s rare when it happens.Doctors do not know what causes it but they do believe it has something to do with DNA that causes cells to be cancerous.