Spinal muscular atrophy (SMA) is a genetic disorder that affects the part of the nervous system that controls voluntary muscle movement. SMA is an autosomal recessive disease where each parent usually carries the mutated gene and both mutated genes are inherited to acquire the disease. “Two carriers have a twenty-five percent chance of having an unaffected child with two normal genes, a fifty percent chance of having an unaffected child who also is a carrier, and a twenty-five percent chance of having an affected child with two recessive genes (“Autosomal Recessive”).” Not many people are aware of SMA but,1 in 50 people are carriers of SMA and about 1 in 10,000 babies are affected (“Cure SMA”). People can get DNA testing done to see if they …show more content…
The SMN1 gene is responsible for the creation of the SMN protein, and without this protein, the motor neurons of the spinal cord and brainstem die off and muscles weaken and waste (atrophy). Muscles used for swallowing, crawling, walking, sitting up and controlling head movement are mainly affected. If one copy of the defected gene and one regular copy of the gene are inherited, than the child will be a carrier of the disease and will not have any symptoms. There are four types of SMA, Type I, Type II, Type II, and Type IV. Each type has different symptoms, age of onset, and severity but, each type affects each person differently.
Type I SMA which is also called Werdnig-Hoffmann Disease or Infantile Onset, is detected before six months of age and is the most common and most severe form of SMA. Children with this type are usually very developmentally delayed and have problems swallowing, breathing, and holding their heads up. “Swallowing and feeding will become difficult for children with this type of SMA and they will eventually lose the ability to swallow safely without aspirating (choking or inhaling secretions and food particles into the lungs)(Battista 5).” The life expectancy for infants with Type I is less than two
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Children with this type can sit up on their own, but will need assistance getting there. They will never be able to walk or stand on their own. The progression of symptoms can vary greatly with Type II. and because of this, many patients can either live into adulthood and live a normal life or die in an early childhood due to respiratory failure. About seventy percent of patients with Type II are alive at age twenty-five ( The muscles will gradually weaken over time, the thighs before the feet and the legs before the arms. Their hands may weaken but patients will still be able to type and do other basic functions (Ferro 4). The biggest threat with Type II is scoliosis which is a curvature of the spine. Scoliosis can cause an interference in mobility and can cause a change in shape to the chest cavity (Spiegel). “Many physicians believe that severe spinal curvatures also compromise respiratory function, since the curved spine often compresses a lung. In severe SMA, it’s hard to say how much respiratory decline would have occurred even without the curvature, so its contribution is uncertain. (Ferro).” Spine straightening surgery is usually recommended but is risky due to the use of anesthesia and the possible dangerous outcomes such as, postanesthetic respiratory
One of the clinical presentations observe with type I, is that the infant will present with head lag on pull to sit and they cannot rotate their head from side to side on prone. SMA type I can also interfere with oral weakness making feeding difficult. Respiratory problems is also associate with this condition causing death to more than half of children less than 2 years of age without mechanical ventilators (Tecklin, 2015). Spinal muscular atrophy type II is less severe than type I. Clinical presentation its seen during the first year of age where the child is no progressing to stant on their own due to proximal muscle weakness and wasting of the extremities and trunk (Tecklin, 2015). Children diagnose with SMA type II will remain independent sitters between the ages of 7-14. These children will not be able to ambulate independently without bracing or assistive device and even with assistance ambulation is difficult, however is encourage to promote joint mobility, and bone growth. Spinal muscular atrophy type III (Kugelberg-Welander disease) is characterized by progressive weakness, no reflexes, and fasciculation. Age presentation may vary from toddler into adulthood. If symptoms is present after 2 years of age patient may continue to ambulate until 44 year of age, on the contrary patient who’s symptoms began prior to 2 years of age may ambulate until 12 years of age. Physical therapy treatment is to maintain function and
The National Organization for Rare Disorders (NORD) says that MSUD happens to males and females at the same rate. The risk of having any form of MSUD depends if your parents have this disorder or not. If both of the parents have the disorder, each child has a 25 percent chance of getting two mutated genes and getting MSUD, the child would have a 50 percent chance from getting one normal gene from each parent. The parent or parents are not able to pass on the gene to their children if they have two normal genes for MSUD. (Healthline,
The symptoms from this disorder are weakness, trouble breathing, & usually for children death after two years. Most children died after two years after having type 1 SMA.
Duchenne muscular dystrophy (DMD) is a genetic disease that weakens one’s muscles. DMD is inherited through an X linked pattern due to the gene carrying the DMD mutation is on the X chromosome. The male population are affected by DMD almost exclusive. There is a one in two chance that a male offspring will have DMD if their mother is a carrier of the mutated gene. Every boy inherits an X chromosome from their mother and a Y from their father. If a boy inherits the mutated gene, then they will definitely have the disease because they don’t have a second gene to make up for the faulty one. Female with DMD are very rare in comparison to their counterpart. Girls inherits two X chromosomes, one from each parent. When a girl inherits
Spinal Muscular Atrophy (SMA) is a disorder primarily associated with deletions or mutations in Chromosome 5 which leads to deficiency of motor neuron protein called SMN or “survival of motor neuron”, located on Chromosome 5, this protein is necessary for motor neuron function (Sumner, 2007). SMA involves degeneration of spinal motor neurons which results to global hypotonia, lung problems, autonomic and bulbar dysfunction.
Gaius Marcius, Caius Martius, was a true hero. He sought out danger and confronted it. Out of all possible situations, he has chosen the one involving risk and then enhanced that risk. This is the way of the hero. This was Coriolanus. Cnaeus Marcius' father died while he was still young, and so he was brought up by his mother, Volumnia. From an early age he was interested in war mbecoming physically strong.
In the past, infants who were diagnosed with SMA typically did not survive more than two years. Today, physicians believe SMA to be more of a continuum and prefer not to make predictions about the prognosis of the disease based on symptoms at onset, as it is more variable.
This is most often done with a small blood sample which is used to prepare DNA. If the person does not have the disease, the DNA they got from the blood test can be used to determine if the person carries the mutation for the genetic disorder.Considering the high carrier frequency, carrier testing is requested by siblings of patients or of parents of SMA children and are aimed at gaining information that may help with reproductive planning (D'Amico,2011). It is also recommended to have carrier testing done if a family that has a child with SMA is planning on having another child. DNA or genetic testing can also be used to determine if your unborn baby has inherited a genetic disorder, this called prenatal genetic testing. Having a genetic test done will be able to tell if the parents, the child or other children have or carry the mutation for SMA.Unfortunately, there is no cure for SMA. Treatment depends on age and how bad the symptoms are. The goal of treatment is to relieve specific symptoms, maintain function and enhance a child's mobility for as long as possible, and maximize the child's independence and quality of life (Izenberg, 2016).Children with SMA have care all of their lives from many different types of doctors. Counseling and support groups help the children and parents understand and deal with what has happened. Many children need some type of breath support as well. Though there is no cure at the moment, there is so much research going on to figure out how to stop this horrible
Metatropic dysplasia is inherited and can be passed down, meaning that is its autosomal dominant. It is also possible that there will be reoccurrences between siblings, though it is variable over time. Testing of the TRPV4 gene is available through CTGT and other corporations that specialize in genetic sequencing. Prenatal ultrasound scans will show narrow spinal canals and shortening of long bones and the supporting structure. Treatment of metatropic dysplasia after birth is possible but its effectiveness varies from each case and it is often an aggressive and labor intensive path to follow. Doctors’ main goals for patients with MTD are to establish satisfactory respiratory and pulmonary functions as well as reducing the amount of skeletal deformity. This may require several surgeries that have their own risks and outpatient treatment plan. If doctors can keep patients with MTD alive for longer periods of time, they will be able to determine which methods of treatment are the most effective. Since this is a genetic mutation, each case will require their oun unique set of tests, since there may be more than one contributing
Some effects of this disease includes axial muscle weakness, crooked spine as well as respiratory insufficiency
Muscular dystrophy is a group of genetic diseases, with no known cure, in which muscle fibers
However, the disease progresses to the point that the children have difficulty rising from the floor and have an obvious waddling gait. This decline in motor strength remains linear. The symptoms accentuate themselves between the age of 3 and 8. On average, functional ability declines rapidly after age 8. By their 9th year some become confined to the wheelchair and by their 12th year most cannot remain ambulatory (Clinical pediatric neurology, Pg. 182). Other symptoms include large and rubbery calf muscles and in Duchenne muscular dystrophy an IQ that is significantly lower than the average, the mean IQ of affected children being of only 85. More importantly the pelvic weakness that prevented them from rising from the floor can increase to such a degree that breathing becomes difficult and some patients can die of chocking.
In the past one hundred years, the human life expectancy has increased by thirty years. This trend continues to rise (Hooyman & Kiyak, 2018). As a direct result, the amount of elderly people in our society will also rise. At first glance, this may seem like a positive growth in our society. However, when taking a second look, you come to realize that with such a positive trend comes a negative trend: the growth of ageism.
Amyotrophic Lateral Sclerosis comes from the greek language. ‘A’ means no, ‘myo’ means muscle, and ‘trophic’ means nourishment, all together it means no muscle nourishment. Lateral is talking about around the spinal cord, where it gets scarred and hardens, sclerosis. There are two types of ALS; sporadic and familial. Sporadic is the most common form in the US, 90%-95% of all cases. Familial ALS (FALS) is inherited from people’s parents. In these kinds of families, there is a 50% chance that the offspring will get these gene and may develop
Physical ability testing is used to select applicants for manual labor or physically demanding jobs (Gatewood, Field, & Barrick, 2016). Types of jobs that use them include firefighters, law enforcement, military personnel, or professional sports. It can be defined as assessing a candidate’s physical ability to perform essential job tasks (Gatewood et al, 2016). There are three main reasons behind the use of physical ability tests today. The first being that the Equal Employment Opportunity Commission (EEOC) legislation has resulted in more women and handicapped individuals applying for male-dominated physical labor positions (Campion, 1983). Despite women typically scoring lower on PATs compared to men, applicants must be evaluated