Overview Of Spinal Muscular Atrophy (SMA)

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Spinal Muscular Atrophy, or SMA, was discovered in the 80’s by two doctors. Early in the 1980’s Doctors Werdnig and Hoffman talked of a disorder of progressive muscular weakness starting in babies, leading to early death. The disease was characterized as a loss of anterior horn cell. The lower motor neuron degeneration has been confirmed to be caused by a loss of anterior horn cells in the cranial nerve nuclei and spinal cord.
The entire body is affected from Spinal Muscular Atrophy. SMA affects the control of muscle movement. Spinal Muscular Atrophy robs people of their ability to walk, eat, swallow, breathe, and in some cases the ability to sit or speak. In a familiar case a boy was robbed not only of his ability to walk, eat, and breathe,
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SMA is transmitted through genes, most carriers do not know they carry the mutated gene. SMA is caused by the survival motor neuron gene 1 (SMN1). Both parents would have to have at least 1 copy of the mutated gene for their child to be born with SMA. Carriers typically do not show and signs or symptoms. 1 in every 50 Americans are genetic carriers. If both parents are carriers of the SMA gene mutation, there is a 25% chance with each pregnancy that the child will be affected. There 's a 50% chance of having a child who would be a SMA gene carrier and a 25% chance of having a child who would neither have SMA or be an SMA gene carrier.
Spinal Muscular Atrophy does not discriminate. SMA can affect anyone! Any gender or ethnic group, no matter what stage of life they may be in.
Testing to look for SMA includes a physical exam, genetic testing, or blood testing to look for an enzyme, known as Creatine Kinase, that leaks from deteriorating muscles. Some doctors do biopsies to look for this disease and may even do a test to measure Nerve Conduction Velocity. A blood test can normally identify types one, two, and
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Feeding tubes are needed with type 2 SMA patients. In most cases of this type the legs seem to become weak before the arms. Many professionals have noticed that children with SMA tend to be unusually intelligent. SMA at this stage of life tends to cause bad cases of scoliosis because the spinal support muscles never become strong. Like all forms of SMA the muscles needed to breathe become very weak.
Type 3 Spinal Muscular Atrophy, affects children 18 months and older. This type of SMA starts when the child takes at least 5 independent steps. In some cases the ability to walk with this type is completely taken away, while in other cases patients may still be able to walk until they are in their 30’s. Adaptive equipment is highly recommended for this type, power wheelchairs and tools for computer usage are the most popular.
Type 4 SMA affects an older crowd, type 4 affects adults age 40 and over. Type 4 is less common than any of the other types. Type 4 symptoms included, twitching and muscle weakness. This form is also known as Adult Onset Spinal Muscular Atrophy,and is considered a rare disorder. Symptoms of this type not only include twitching and weakness it also includes, wasting away of muscles typically only the muscles close to the centre of the body, like the upper arms and legs. Also muscle aches and joint overuse symptoms are very well known with this

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