Spinal Muscular Atrophy
Many people have never heard of spinal muscular atrophy. Sadly, the first time that many people will hear of it is when they are diagnosed with it, or they have a child or a loved on that is diagnosed with the disease.
Spinal muscular atrophy can apply to different disorders. However, they all have a common genetic cause that produces weakness which is a result of lost motor neurons in the brainstem and spinal cord. Symptoms of spinal muscular atrophy in infants include poor muscle tone, muscle weakness, limpness, difficulty swallowing or sucking, weak legs, secretions that accumulate in the throat or lungs, weak crying and inability to reach developmental milestones. Sadly, it seems that the earlier spinal muscular atrophy appears the shorter the life span will be. There is no cure for spinal muscular atrophy and it can be fatal.
Type 1 infantile spinal muscular atrophy is also known as Werdnig-Hoffman disease. It generally appears before six months of age, yet it can appear anytime in the first year. This is the most severe form of spinal muscular atrophy. Infants do not ever have the ability to independently sit.
Type 2 intermediate spinal muscular atrophy is usually diagnosed in children who are between the ages of six and eighteen months. These children are unable to stand or walk. However, they are capable of staying in a seated position for some time.
Type 3 Juvenile spinal muscular atrophy is also known as Kugelberg-Welander disease. This diagnosis is given to children who are eighteen months or older who have been able to walk at one point or another.
Type 4 spinal muscular atrophy is known as adult SMA. The disease is slower to progress and it generally has no effect on life expectancy. Symptoms usually appear in late adolescence with a weakness beginning in the hands, feet or tongue. Over time the disease progresses to other areas of the body.
It should be noted that there are other forms or types of spinal muscular atrophy. Some of them are known while others are unknown and have not been defined. However, all forms of the disease have weakness in common. If an individual has motor denervation and sensory denervation it is known as Hereditary Motor Sensory Neuropathy or Charcot-Marie-Tooth. Adults who have spinal muscular atrophy do not have their intellectual abilities hampered. Many adults with the disease will use assistive devices to help them in their day to day life. Adults with the disease are able to respond sexually and even give birth.
Unfortunately there is no known drug that will alter or cure spinal muscular atrophy. However, there are a few different drugs that are currently being investigated in the laboratory that seem promising.
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