Duchenne Muscular Dystrophy Introduction Duchenne Muscular Dystrophy is a dangerous and rare disorder. It is transferred through family generations because it is a genetic disease. Duchenne Muscular Dystrophy is referred to by many names including DMD, Duchenne Syndrome, and Pseudohypertrophy. DMD is when the body cannot make dystrophin so it results in muscle weakness. Mode of Inheritance Duchenne Muscular Dystrophy is a X-linked recessive disorder and that is why DMD is more common in males. Women can only be a carrier of the disease, but it is rare for women to actually experience some of the symptoms. Women have two X-chromosomes so that is why they will not have the disease. They have one defected gene and one normal. Their normal …show more content…
Cardiomyopathy can occur from the lack of dystrophin on the heart muscles. Cardiomyopathy makes it difficult for the patient to breathe. The heart becomes weak and swollen. It is not able to pump enough blood throughout the body, which will cause life-threatening results. This type of muscular dystrophy comes along with not only physical issues but psychological as well. Duchenne Muscular Dystrophy also can cause mental issues associated with reading, writing, and math. This is not as common as the heart problems, but still can show up as being related to Duchenne Muscular Dystrophy. Many of the children with DMD experience physiological problems because they are different and can’t be as independent or active as other kids their age. This can cause depression. Duchenne Muscular Dystrophy is a disorder that is both mentally and physically challenging. Duchenne Syndrome is caused by the mutation of a gene on the X-chromosome. A muscle protein, dystrophin, is affected by this mutation. The damaged gene cannot make enough dystrophin to work right, so it will result in DMD. Dystrophin is a protein that is associated with muscles in the heart, bones, and some in the nerve
Each year duchenne muscular dystrophy affects around 1 in 3500 male births worldwide(1). Duchenne affects patient's whole life since it attacks skeletal system, respiratory system, and in progress stages it may attack the heart(2).The phases of duchenne muscular dystrophy help scientists understand the disease because each phase has its own symptoms. Moreover, each phase attacks specific systems and organs in the patient's body. Duchenne muscular dystrophy develops relentlessly over time, and can be divided into three phases, early phase , transitional phase, and teenager and adult phase(1). The Early phase of duchenne muscular dystrophy begins from the day is diagnosed until the patient is 6 years old(1).Duchenne can by diagnosed through a muscle biopsy, taking a sample
The results fitted nicely with the author’s hypothesis, showing PGC-1α gene transfer was able to control and enhance dystrophin-deficient muscle functioning. Despite successful results, the authors have noted contradicting findings such as increased inflammation in the treated limbs. Little explanation was given as to why and whether it could affect the muscle in the long run, so more elaboration is needed. Overall, the study was well-designed with results to support the hypothesis of this potential treatment for DMD to mitigate symptoms and restore muscle
Description of the limb girdle muscular dystrophies [LGMD2B] Autosomal recessive Limb girdle muscular dystrophy 2B also known as dysferlinopathy, is due to the mutations in the gene dysferlin which codes for the protein involved in the membrane repair. It is ultimately mapped to the chromosome region 2p13 (C. Angelini*{, 2010)[1] which is caused by primarily, proximal weakness. (Aoki, 2004)
Preamble According to “Deseret News National”, The ten (10) common disabilities American children have are; Autism, Attention deficit hyperactivity disorder, Cerebral palsy, Down syndrome, Epilepsy, Spina bifida, Dyslexia, Dyscalculia, Intellectual disability, Depression. There are other disabilities such as neurological, genetic, chromosomal abnormality, developmental, metabolic, childhood, brain, delays, disorder/ disability, traumatic brain injury, birth defects, Auditory Processing, Visual Impairment, Emotional/Behavior Disorders. “The most common developmental disorder is mental retardation” (L. Straus). According to the CDC, more than one out of every 100 school children in the United States has been diagnosed with some form of mental
DMD is muscular disorder that causes progressive weakening of muscles. It is one of nine types of Muscular dystrophies, it is the most common, most fatal, and progresses the fastest. It is genetic through a mutated gene on the X chromosome, it is passed through the Mother. In many cases it happens when there is not any known family history of the disorder.
I suppose the type of muscular dystrophy you have and your body type will vary on how long that they may
“Every human has an MAOA gene. ... The MAOA gene is located on the X chromosome, which means that while women have two copies, men only have one.... There are a few variants of the gene, one of which -- MAOA-3R, present in about 30 percent of men -- has been shown over and over again, in
Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females. Alport syndrome occurs in approximately 1 in 50,000 newborns. Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes.
There are some cases where the disease can either be autosomal recessive or X-linked, but these are less common.1 ALS is a disease that affects motor neurons, eventually causing muscles to become weakened to the point of not being usable and breathing becomes increasingly difficult. Individuals with this disease lose the ability to walk, have difficulty chewing or swallowing, lose mobility of other muscles, and gain difficulty in breathing. Their muscles often become thinner due to atrophy. Symptoms of ALS do not typically develop until the person affected is
If a male offspring is diagnosed with this defective gene the results are usually fatal.
RARE PEDIATRIC DISEASE DESIGNATION FOR THE POTENTIAL TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY Duchenne muscular dystrophy (DMD) is a serious and rare genetic disorder characterized by progressive muscle degeneration and weakness, primarily affecting boys. According to the Centers for Disease Control and Prevention, 15 out of every 100,000 males, aged between 5 and 24 years are affected. Symptoms usually start appearing in early childhood between 3 and 5 years of age. Gradually, the disease progresses with the weakening of skeletal or voluntary muscles in the arms, legs, and trunk. Due to this progressive muscle weakness, often the patients become bound to the wheelchair at an early age.
One can only get spinal muscular atrophy only if both of their parents had copies of a defective gene. Furthermore, if the
Musculoskeletal Diseases Musculoskeletal diseases can cause both major or minor physical disabilities that can be critical. Some musculoskeletal diseases don 't have a cure but there are many treatment options. Two examples of Musculoskeletal diseases are Fibrous Dysplasia of Bone and Duchenne Muscular Dystrophy. Fibrous Dysplasia is a genetic disease that is characterized by bone pain deformities and fractures that involve one or more bones. Fibrous Dysplasia is associated with osteoblastic defects along with increased bone resorption.
One in 150 women and one in 450 men have the FXS premutation and risk giving it to their child (Skomorowsky). A baby inherits FXS if the chromosome they receive from the parent carries the premutation. Since everyone has two sex chromosomes, even if the one of the parents carries the premutation, their is only a 50% risk of transfer to the baby (Carvajal & Aldridge 24). Boys are more likely to be born with Fragile X Syndrome because they have one X chromosome and one Y chromosome, while a girl has two X chromosomes, so the syndrome doesn’t affect them as badly. However, the premutation gene is more common in girls than boys (Skomorowsky).
Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of thirteen boys with the most common and severe form of the disease, which now carries his name—Duchenne muscular dystrophy.