User:Anderclamusc/sandbox

Some edits were done without the use of sandbox. To my Instructors, here is edit history that sandbox was not utilized. I copied the bulleted lines from the edit history from SMA article page:
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Management[edit]
The clinical management of an individual with SMA varies based upon the severity/type. Management of individual patients with the same type of SMA can vary. The most severe form(type 0/I), individuals have the greatest muscle weakness requiring prompt intervention. Whereas the least severe form(type 4/adult onset), individuals may not seek the certain aspects of care until later(decades) in life. While types of SMA and individuals among each type may differ, therefore aspects of an individual’s care may differ as well. The health issues that are most common and require intervention are:

Respiratory care[edit]
The respiratory system is the most common system to be affected and the complications are the leading cause of death in SMA types 0/I and II. SMA type III can have similar respiratory problems, but it is more rare. The complications are due to weakened intercostal muscles secondary to the lack of stimulation from the nerve. The diaphragm is less affected than the intercostal muscles. Once weakened, the muscles never fully recovers the same functional capacity to help in breathing and coughing as well as other functions. Therefore breathing is more difficult and pose a risk of not getting enough oxygen/shallow breathing and insufficient clearance of airway secretions. These issues more commonly occurs while asleep, when muscles are more relaxed. Breathing issues can arise later in childhood secondary abnormal spine curvature(see orthopedics). Swallowing muscles in the pharynx can be affected, leading to aspiration coupled with a poor coughing mechanism increases the likelihood of infection/pneumonia. Mobilizing and clearing secretions involve manual or mechanical chest physiotherapy with postural drainage, and manual or mechanical cough assistance device(also called mechanical insufflation-exsufflation device). There are two ways to assist in breathing, non-invasive and invasive. Non-invasive ventilation (BiPAP) is frequently used. An invasive tracheostomy may be sometimes performed in more severe cases; both methods of ventilation prolong survival to a comparable degree, although tracheostomy prevents speech development.

Nutrition[edit]
The more severe the type of SMA, the more likely to have nutrition related health issues. Health issues can be; difficulty in feeding, jaw opening, chewing and swallowing. In individuals with such difficulties can increase the risk of over or undernutrition, failure to thrive and aspiration. Other nutritional issues, espicially in individuals that are non-ambulatory (more severe types of SMA) include; food not passing through the stomach quickly enough, gastric reflux, constipation, vomiting and bloating. Therein, it could be necessary in SMA type I and people with more severe type II to have a feeding tube or gastrostomy. Additionally, metabolic abnormalities resulting from SMA impair β-oxidation of fatty acids in muscles and can lead to organic acidemia and consequent muscle damage, especially when fasting. There is no proven one diet that is best for an individual with SMA. However, it is suggested that people with SMA, especially those with more severe forms of the disease, reduce intake of fat and avoid prolonged fasting (i.e., eat more frequently than healthy people) as well as choosing softer foods to avoid aspiration. During an acute illness, nutritional problems may first present or exacerbate an existing problem (example: aspiration) as well as cause other health issues such as electrolyte and blood sugar disturbances.

Orthopaedics[edit]
Skeletal problems associated with weak muscles in SMA include tight joints with limited range of movement, hip dislocations, spinal deformity, osteopenia, an increase risk of fractures and pain. Weak muscles that normally stabilize joints such as the vertebral column lead to development of kyphosis and/or scoliosis and joint contracture. Spine fusion is sometimes performed in people with SMA I/II once they reach the age of 8-10 to relieve the pressure of a deformed spine on the lungs. Furthermore, immobile individuals, posture and position on mobility devices as well as range of motion exercises, and bone strengthening can be important to prevent complications. People with SMA might also benefit greatly from various forms of physiotherapy, occupational therapy and physical therapy.

Mobility support[edit]
Orthotic devices can be used to support the body and to aid walking. For example, orthotics such as AFO's (ankle foot orthosis) are used to stabilise the foot and to aid gait, TLSO's (thoracic lumbar sacral orthosis) are used to stabilise the torso. Assistive technologies may help in managing movement and daily activity and greatly increase the quality of life.

Cardiology[edit]
Although the heart is not a matter of routine concern, a link between SMA and certain heart conditions has been suggested.

Mental health[edit]
SMA children do not differ from the general population in their behaviour; their cognitive development can be slightly faster, and certain aspects of their intelligence are above the average. Despite their disability, SMA-affected people report high degree of satisfaction from life.

Palliative care in SMA has been standardised in the Consensus Statement for Standard of Care in Spinal Muscular Atrophy which has been recommended for standard adoption worldwide.

Signs and symptoms[edit]
The symptoms vary greatly depending on the SMA type involved, the stage of the disease, and individual factors; they commonly include:
 * Areflexia, particularly in extremities
 * Overall muscle weakness, poor muscle tone, limpness or a tendency to flop
 * Difficulty achieving developmental milestones, difficulty sitting/standing/walking
 * In small children: adopting of a frog-leg position when sitting (hips abducted and knees flexed)
 * Loss of strength of the respiratory muscles: weak cough, weak cry (infants), accumulation of secretions in the lungs or throat, respiratory distress
 * Bell-shaped torso (caused by using only abdominal muscles for respiration) in weaker SMA types Bell_Shaped_Torso.jpgclamusc (talk) 16:33, 28 November 2017 (UTC)
 * Fasciculations (twitching) of the tongue
 * Difficulty sucking or swallowing, poor feeding

Diagnosis[edit]
The most severe manifestation on the SMA spectrum can be noticeable to mother's late in their pregnancy by reduced or the absent fetal movements. Symptoms are critical (including respiratory distress & poor feeding) which usually result in death within weeks. In comparison to the mildest phenotype of SMA, where muscle weakness may present after decades and progress to the use of a wheelchair but life expectancy is unchanged

The more common clinical manifestations of the SMA spectrum that prompt diagnostic genetic testing: While the above symptoms point towards SMA, the diagnosis can only be confirmed with absolute certainty through genetic testing for bi-allelic deletion of exon 7 of the SMN1 gene. Genetic testing is usually carried out using a blood sample, and MLPA is one of more frequently used gene sequencing techniques, as it also allows establishing the number of SMN2 gene copies.
 * Progressive bilateral muscle weakness (Usually upper arms & legs more so than hands and feet) preceded by an asymptomatic period(all but most severe type 0)
 * Flattening of the chest wall when taking a breath and belly protrusion when taking a breath in
 * hypotonia associated with absent reflexes.

Preimplantation testing[edit]
Preimplantation genetic diagnosis can be used to screen for SMA-affected embryos during in-vitro fertilisation.

Prenatal testing[edit]
Prenatal testing for SMA is possible through chorionic villus sampling, cell-free fetal DNA analysis and other methods.

Carrier testing[edit]
Those at risk of being carriers of SMN1 deletion, and thus at risk of having offspring affected by SMA, can undergo carrier analysis using a blood or saliva sample. The American College of Obstetricians and Gynecologists recommends all people thinking of becoming pregnant be tested to see if they are a carrier.

Routine screening[edit]
Routine prenatal or neonatal screening for SMA is controversial, because of the cost, and because of the severity of the disease. Some researchers have concluded that population screening for SMA is not cost-effective, at a cost of $5 million per case averted in the United States as of 2009. Others conclude that SMA meets the criteria for screening programs and relevant testing should be offered to all couples.