In the autobiography, Laughing at my Nightmare, the author, Shane Burcaw, is diagnosed with spinal muscular atrophy, and the book deals with Burcaw’s life with spinal muscular atrophy. In order to understand spinal muscular atrophy, one must know the causes, the variations of spinal muscular atrophy, as well as the outlook of the disease.
The disease Duchenne muscular Dystrophy (DMD) is the most common form of muscular dystrophy (1) in fact 3 out of every 10,000 births will result in a male born with this disorder (2). DMD is a recessive sex linked disorder that can only be passed down to the child if his mother is the carrier (2, 3). Symptoms for DMD are confinement to a wheel chair by the age of 11at the latest and are expected to die in their twenties to forties (2, 4). This is because DMD causes progressive muscle weakness and will reduce muscle tone throughout the body. Muscle weakness will usually begin its onset by the age of three (4). Other symptoms for DMD include pseudohypertrophy (the growth of an organ or a part due to an increase in the amount of other tissue that is fatty
There are more than thirty inherited muscular dystrophy that causes the muscles to wither, and weaken. Even though there are over thirty different types, Duchenne muscular dystrophy is the most severe form of muscular dystrophy. Around three years of age is when symptoms begin to show, and with continuous muscle impairment the children that have Duchenne muscular dystrophy are normally wheelchair bound in their early teens. Following that; when the child reaches their mid to late twenties they suffer from cardiac/respiratory failure leading to death. Duchenne muscular dystrophy is a form of muscular dystrophy that only affects boys.
Amyotrophic Lateral Sclerosis, or ALS, was discovered in 1869 by a French neurologist Jean-Martin Charcot. Today this disease is commonly referred to as Lou Gehrig’s disease, after the famous baseball player who suffered through ALS. ALS is a progressive nervous system disease where the nerve cells break down impacting bodily functions. The disease affects the motor neurons that provide voluntary movements and muscle control. Those who are diagnosed with ALS will eventually lose their ability to eat, speak, move and breathe. The cause of ALS is unknown. As of today, there is no cure for this disease however with medication and therapeutic treatments the progression of it can be slowed down. The treatments will also help reduce the discomfort of having the disease (The ALS Association, www.alsa.org).
Muscular Dystrophy is a hereditary disease where the muscles waste away and progressively get weaker. There may be periods of time where the disease is at rest, and the muscles aren’t wasting away, but for the most part the muscles continue to get weaker and weaker. Through exercise and physiotherapy, the disease can be slowed. It is important to continue to mobilize the muscles as to prevent contractures. Contractures occur when a joint has become immobile for so long that it can no longer be moved at all. Though the disease itself results in progressive weakness, it is usually not painful. A person diagnosed with muscular dystrophy can sometimes experience cramping, though that is uncommon. There are different types of muscular dystrophies,
Haemophilia A is an X-linked recessive disorder and is caused by an inherited genetic mutation that is a permanent alternation in the DNA sequence which makes up a gene. This means that some of the body processes will not work in a normal way. The DNA molecule is packaged into a thread – like structure called chromosomes and they are responsible for carrying genetic information in the form of genes. There are two types of sex chromosomes: the X chromosome and the Y chromosome. All humans have a pair of sex chromosomes. Women have an XX pair and men have an XY pair. Girls inherit an X chromosome from each parent whereas boys inherit an X chromosome from their mother and an Y chromosome from their father. The chances of a child inheriting the
Genes are the basic hereditary units consisting of DNA sequences which code information for the synthesis of specific proteins. Phenotypic expression as well as the personality expression and behavioral patterns are also determined by these genes. Disorders caused by the abnormalities in an individual’s genome are known as genetic disorders
Muscular dystrophy (MD) is a group of inherited diseases characterized by progressive weakness and generation of the skeletal muscles that control movement. The patient has to undergo “clinical examination and laboratory procedures, including electromyography, muscle biopsy, DNA analysis and selected enzymes levels assayed from blood samples” (Campbell, Palisano 2006). The most common form of muscular dystrophy occurring in children is Duchenne Muscular Dystrophy amongst other prevalent types (Table 1). The focus will be on Duchenne Muscle Dystrophy (DMD), its physiotherapy management and the outcome measures to maintain ambulation and lower limb muscle strength during the early stages of the disease.
The principle investigator of this proposed study lives with congenital muscular dystrophy and uses power wheelchair to support her mobility in daily life. She has been experiencing various degree of oppression by the inaccessibility in the built environment every day since she was a child. She has to keep asking people for help or being highly vigilant to figure out wheelchair-accessible routes (if any) while she is navigating the built environment. Such continual negotiation makes her seriously frustrated and loses agency of her daily life. She hopes to enjoy a social life freely as her peers do. People usually try to comfort her by saying that she still got other choices and just go to those places that are accessible for you; and it will be fine. Sometimes people may even want to persuade her to be satisfied with the current situations as it is seemingly impossible to make the environment totally barrier-free. However, in response to the recurrent experiences of spatial oppression and other people’s lack of awareness of the significance of a barrier-free society, she aspires to examine the close connections of architectural inaccessibility and stigmatization of people with physical disabilities (PWPD). As to the general public, actually an “unfriendly” environment would also deprive them of the opportunity to appreciate the
Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays. It has been demonstrated that the possibility of a child being born with Down syndrome increases as the age of the mother increases, and clearly women have delayed their maternity especially
A group of British researchers and administrators told MPs that the creation of three-parents babies is safe, ethical and inconsequential. This is called mitochondrial transfer. It is called that because mitochondria swim around the nucleus. Almost all of a cell’s DNA is in the nucleus and only about one percent is in the mitochondria. If there was a defect in the mother’s mitochondria, the child has a possibility of inheriting defects. A woman that lives in London, has a baby that is ten months old that has Leigh’s syndrome. The cause was likely caused by a flaw in the mother 's mitochondrial DNA. The defect results in lesions on the brain and the baby will more than likely die at infancy. The problem with this disease and mitochondrial diseases is there is no cure. This is why scientists are trying to get
Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder. The frequency of getting affect by Klinefelter syndrome is 1in 500 to 1,000 newborn males. Klinefelter syndrome isn’t inherited but occurs as random event during the formation of reproductive cells in a parent. SYMPTOMS AT BIRTH AND CHILDHOOD Birth: Small Penis Undescended Most people with the syndrome are not diagnosed until they are adults but sign of the syndrome show up as you grow to become an adult. If they are early dragonised they can receive help to overcome any problems that are caused by Klinefelter Syndrome KLINEFELTER SYNDROME SYMPTOMS DIAGRAMS GENETICS OF THE DISEASE While Klinefelter Syndrome is a genetic disorder it isn’t inherited by any of the male and female counter parts. This is caused by the additional X chromosome which is can described as an error in cell division called meiosis causes an reproductive cell to have abnormal number of chromosomes. The image on the right clearly shows the karyotype for Klinefelter syndrome and were the chromosome disorder is. Klinefelter syndrome is a chromosomal mutation due to the extra sex chromosome. It is a chromosomal disorder but is still due to the fact that it is random event. GENETICS OF THE DISEASE The additional X chromosome I found with the other two sex chromosomes making it a total of 47 chromosomes instead of 46 which leads to the male child's hormonal and sexual related abnormalities as the grow up. Klinefelter syndrome can be diagnosed through a physical examination, chromosome analysis, blood test and semen