Spinal Muscular Atrophy

Spinal Muscular Atrophy Spinal Muscular Atrophy Spinal muscular 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 the Neurons to shrink and become destroyed and prevents messages coming from the body To the brain and muscles depend on that for proper function. Some muscles are not affected when having SMA like the bladder muscles. Hearing and vision are not affected and intelligence is normal or above average. Investigators have noted that children with SMA can have very high intelligence. There are 3 types of SMA all 3 types are known As autonomic recessive genes. To inherit SMA both parents must give the defective gene in order for the offspring to inherit the disorder. Sometimes SMA is inherited as an autonomic 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 types of SMA.There is another form of the disease called x-linked spinal bulbar atrophy that arises from a defect in a gene called the androgen receptor gene on the X chromosome. Every form of SMA affects the bones muscles of the trunk and limbs. These muscles are closer to the center of the body and are more infected than other parts that are farther than the body like the fingers. SMA type 1 affects the neurons that control your mouth and throat which makes chewing and eating problems. Type 1 is the most severe of all the types of SMA and is noticed during the first 6 months of birth. Cannot sit without support or a cushion, death is usually occurred before the age of 2. SMA type 2 isnt as worse as type 1 and is noticed during the ages of 7 months to 18 months of age. Cannot sit properly without a cushion or support, cannot learn to walk without any help or assistance has numerous swallowing difficulty some lucky children survive until childhood. Type 3 SMA occurs after the age of 18 months 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 might live 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 properly produce the proteins that are needed for a cell to function. A big chain can happen when a little protein is absent when there is too little or too much protein or if it doesnt work right for some reason. In the case of SMA protein abnormalities prevent the normal functioning of motor neurons. SMA causes muscle degeneration and will shrink until muscle weakness happens. SMA is not spreadable because disorders cannot spread from person to person only if parents have the 2 recessive SMA genes. There are no cures or treatments for spinal muscular atrophy right now but researchers and scientist are trying to find a way to get rid of SMA or at least reverse some of the affects that causes death for the young. Some symptoms of SMA are muscle weakness, leg weakness, thin muscles, hard time breathing, hard time eating/swallowing, lack of movement and walking, head control, hard time sitting up, hard time crawling when a baby. SMA affects life span a lot, especially when a child or a baby because you have 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 about SMA 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 and its affects to the human body and muscles. SMA is the most common diagnosis in girls with progressive weakness. It is one of the most common genetic causes of death in children! In the United States it is about 5 out of 100,000 child births that are affected with SMA. In ND (North Dakota) it is about 15 out of 100,000 children that are affected with SMA. SMA seems to be affecting more people in North Dakota then anywhere else in other areas. Males are more common to get SMA other than females, the ratio to males to females is 2:1 although the ratio is 2:1 how long you live with SMA is not affected by sex. 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 that much 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 huge duplication. The gene copies its self which causes mutation. The smn2 gene has a another mutation that makes less protein that does it in a very slow level. The most common forms of SMA are caused by the mutation of the SMN gene and affects different areas of the body and makes severe or less severe damages depending on how the gene mutates. Boys that get the gene die before the age of 2, but girls that 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 have SMA. Doctors and researches help with the symptoms and features of SMA to help reduce 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 and spine neurons will eventually die out and muscles will die out to.