Spinal Muscular Atrophy

Spinal Muscular AtrophySpinal Muscular Atrophy Spinal unchewable Atrophy is a disorder when the spine and muscles are affected. The Neurons on the spinal cord that control movement of muscles are infected and causes theNeurons to shrink and become destroyed and prevents messages coming from the personifyTo the brain and muscles depend on that for fit function. Some muscles are non affected when having SMA like the bladder muscles. Hearing and vision are non affectedand intelligence is normal or higher up average. Investigators piddle noted that children with SMA can have very high intelligence. There are 3 personas of SMA all 3 types are known As autonomic recessive genes. To inherit SMA both parents must give the defective genein order for the offspring to inherit the disorder. Some clippings SMA is inherited as anautonomic dominant gene. Type 1, 2, and 3 are got from a defected same gene on chromosome 5, different affected chromosomes will have different affects and typeso f SMA.There is another(prenominal) frame of reference of the disease called x-linked spinal bulbar atrophy thatarises from a defect in a gene called the androgen receptor gene on the X chromosome. each form of SMA affects the bones muscles of the trunk and limbs. These musclesare closer to the center of the body and are more infected than other parts that arefarther than the body like the fingers. SMA type 1 affects the neurons that control your m surfaceh and throat which makes chewing and eating problems. Type 1 is the mostsevere of all the types of SMA and is noticed during the root 6 months of birth.Cannot sit without support or a cushion, death is usually occurred forrader the ageof 2. SMA type 2 isnt as worse as type 1 and is noticed during the ages of 7 monthsto 18 months of age. Cannot sit properly without a cushion or support, cannotlearn to walk without any care or economic aid has numerous swallowing difficulty somelucky children survive until childhood. Type 3 SMA o ccurs after the age of 18months old. Weakness of the muscles in the mouth and throat is not likely to happen.Not as severe as type 1 and 2 but still can cause death if not cared for, children aptitudelive up to adulthood SMA is inherited by both parents having the recessive gene is their DNA and the offspring inherits 22 of the non sex chromosomes. When genes are defected they do not function and properlyproduce the proteins that are needed for a cell to function. A big chain can happenwhen a little protein is dispatch when there is too little or too much protein or if it doesntwork right for some reason. In the case of SMA protein abnormalities prevent the normal work of motor neurons. SMA causes muscle degeneration and will shrinkuntil muscle weakness happens. SMA is not spreadable because disorders cannot spreadfrom person to person only if parents have the 2 recessive SMA genes. There are nocures or treatments for spinal muscular atrophy right now but researchers and scientis tare trying to find a itinerary to get rid of SMA or at least reverse some of the affects thatcauses death for the young. Some symptoms of SMA are muscle weakness, legweakness, thin muscles, hard time breathing, hard time eating/swallowing, lack ofmovement and walking, head control, hard time sitting up, hard time crawling whena baby. SMA affects life cut across a lot, especially when a child or a baby because youhave a high risk of dying because of the disorder. Muscles are weak and have a hard time walking.SMA affects all kinds of people. In 1890 G. Werdnig found aboutSMA and the first type of the form of SMA. Years later a person named Kugelberg and another person named Welander described the less severe types of SMA andits affects to the human body and muscles. SMA is the most super C diagnosis ingirls with progressive weakness. It is one of the most common contagious causes of deathin children In the United States it is about 5 out of 100,000 child births that are affectedw ith SMA. In ND (North Dakota) it is about 15 out of 100,000 children that are affectedwith SMA. SMA seems to be affecting more people in North Dakota then anywhere elsein other areas. Males are more common to get SMA other than females, the ratio to malesto females is 21 although the ratio is 21 how long you live with SMA is not affected bysex. Spinal muscular atrophy used to be only affecting black African Americans but years have passed and it is indicated that SMA is not affecting African Americans thatmuch as it used to a while back. Spinal muscular atrophy is caused by the region of chromosome 5 that contains SMN (survival motor neuron) gene has a very abnormal big duplication. The gene copies its self which causes mutation. The smn2 gene hasa another mutation that makes less protein that does it in a very slow level. The mostcommon forms of SMA are caused by the mutation of the SMN gene and affectsdifferent areas of the body and makes severe or less severe damages dependingon how the gene mutates. Boys that get the gene die before the age of 2, but girlsthat get the gene are carriers unless they die before having an offspring. There are about 1,386 families that have SMA and 759 females and 776 males that do haveSMA. Doctors and researches help with the symptoms and features of SMA to helpreduce the chance of death. Doctors talk with children and help babies walk and breath.The spine is dislocated and is not straight. The spine wont function correctly andspine neurons will at long last die out and muscles will die out to.