Symptoms And Symptoms Of Mcardle 's Syndrome

Because symptoms are wide - ranged and studies for treatment of FMS did not begin until the 1980's, it is one of the most popularly misdiagnosed conditions in the medical world. The main symptoms are widespread pain and fatigue as well

Morquio syndrome is when the metabolism does not have enough or is missing a substance. These molecules are called glycosaminoglycans. When the body does not produce enough enzymes, serious problems can happen. Morquio A is a recessive inherited disease. Most of the time the disease shows up in 2 to 3 year olds.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Credibility Statement: According to the "Muscular Dystrophies" by Harvey B.Sarnat in Nelson Textbook of Pediatrics, 20th Ed 2016, "A muscular dystrophy is distinguished from all other neuromuscular diseases by 4 obligatory criteria: It is a primary myopathy, it has a genetic basis,

Muscular dystrophy is an inherited disease that was discovered in 1861, by Guillaume B.A. Duchenne. Muscular dystrophy is a group of heredity disorders characterized by rapidly-worsening muscle weakness. The trait for muscular dystrophy may be transmitted as an autosomal dominant which means a disorder that has two copies of an abnormal gene that must be present in order for the disease or trait to develop. In this case, if some original carrier of the disease had children, the children would have a fifty-fifty chance of inheriting the disease. It is also carried as an autosomal recessive trait, in which case the offspring of the original carrier would have a very small chance of

According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or

MG may be difficult to diagnose and may not be determined for a couple of years. Reasons are as follows: the onset is gradual with the symptoms worsening over time, weakness and fatigue can also be signs and symptoms of other diseases, one or more of the voluntary muscle groups may experience weakness and with different degrees of severity, and also every patient may experiences the disease differently. After the medical history and physical examination, the physician may see a need for further muscle and neurological tests. Blood tests can detect abnormal antibodies. Nerve conduction studies and repetitive stimulation tests the nerve’s communication with the muscle. When stimulated a number of times the test will indicate muscle weakness. Single-fiber (EMG) electromyography is a test that measures the communication between the nerve and a muscle by inserting a small needle into a single muscle and recording the electrical muscle activity. CT scan or MRI may be ordered to check for

Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and swallowing problems, coloboma of the eyelids, wide mouth which gives limited mouth opening, dry eye syndrome (causes infections) and downward sloping eyes. Persons with this disease can be born blind, deaf, suffer from depression and/or are unable to

Duchenne muscular dystrophy is the most common genetic disease fatal in children, it is a severe and rapidly progressive muscle disease with symptoms that first become evident due to the affected child showing early motor developmental delay; for example, presentation of Gower’s sign, a diagnostic indicator of proximal muscle weakness characterised by the affected having to “walk” their hands up their body to stand due to little strength being present in the lower limb.

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Muscular dystrophy can be diagnosed with a physical exam and diagnostic testing completed by the child’s pediatrician. Additional information that will be obtained during the examination will be family history, pregnancy history, and birth history. Diagnostic studies for muscular dystrophy include muscle serum enzymes (especially creatine kinase), electromyogram (EMG) testing, muscle fiber biopsy, electrocardiogram abnormalities reflective of cardiomyopathy, and genetic pedigree (Lewis, 2011). Duchenne muscular dystrophy is caused by the lack of dystrophin. A muscle biopsy can be done to confirm a diagnosis of muscle dystrophy. The biopsy will show evidence of significant fat and connective tissue deposits, deterioration and necrosis of muscle fibers, and a lack of the muscle

Apart from this, Marfan syndrome has several symptoms. However, the most prominent indicators affect the skeletal, cardiac, and optical systems. The entire fibrous connective can also be affected (4). Other signs include extreme nearsightedness, an abnormally curved spine, flat feet, excessively limbs, and extraordinary and overcrowded teeth. The central cause of the condition is a deficiency in the gene that enables the human body to produce the fibrillin protein, which provides the connective tissue the strength and power to support the body organ (4). Along with this, an individual inherits the abnormal from parents who had the disorder, and the condition can occur in men and women in all races as well as

MODY is a genetic disorder. On one of the most rare genetic disorder. It could also be identified as diabetes 1.3.often misdiagnosed as pre-diabetes in adults. It appears in 1 to 11 chromosomes. Victims of M.O.D.Y are more often found in adults than kids but still possible, they will more than often have trouble to maintain their blood sugar level. If level to high or low the symptoms may vary but is found to have large mood swings, what I have found is that often will be tired, drowsy, or angry for no apparent reason. Also hypoglycemia and blurry vison. With these symptoms it may be very hard to do any simple task or if you are simply hungry wanting to snack, in MODY type 2 3 and many others, you have to check your blood sugar like many other

Mucopolysaccharidosis Type II, also called Hunter Syndrome, is one of eleven types in a group of rare genetic lysosomal storage disorders called Muchopolysaccharidoses or MPS. (Lorena Elena Melit, 2015) Hunter Syndrome is named after Charles Hunter. He was a Canadian physician that, in 1917, found a rare disease in two brothers. (Lorena Elena Melit, 2015) Hunter Syndrome is the most common of the MPS disorders. (Lorena Elena Melit, 2015) In the U.S., on average, one in every 25,000 babies will be born with some form of MPS. (Health, 2016) These disorders only affect someone who inherits a defective gene from both parents. However, Hunter Syndrome or MPS II, is different form the others in the group. (Health, 2016) MPS II is inherited when the

For this week’s forum post I have decided to take the option number one, which is regarding McArdle’s Disease. I have not heard of this disease before and am very interested in assignments such as this. From my research, I have learned that McArdle’s Disease is a rare condition that affects the storage of glycogen in the muscular tissues. This condition hampers the energy metabolism in the muscle and can lead to many significant negative risk factors (Bollig, 2013). The way that this condition has been described is that it is inherited disease in which larger than normal amounts of glycogen accumulate in skeletal muscle, causing muscle cramping and weakness after exercise.