Spinal Muscular Atrophy
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Introduction to Spinal Muscular Atrophy (SMA)

 Spinal muscular atrophy is a disease affecting the nerves. The nerves that are present in the spinal cord’s area named anterior horn get affected by this disease. The damage of the nerve cells breaches the link of the brain with the muscles. This breakage causes the failure of the functioning of these muscles and they become atrophied or wasted. This disease equally affects males and females. In most of the cases, this disease is inherited genetically.

Cause of Spinal Muscular Atrophy

The cause of spinal muscular atrophy varies with the types of it. Type I of SMA is often caused if a baby is affected by pneumonia. In this case, the baby does not survive for more than a couple of years. This disease is mainly caused by genetic mutation. The SMN gene is mainly responsible for the disease. The disease is also caused when the UBE1 gene performs mutation on the X-chromosome. If a boy inherits this disease then he usually does not survive. This gene has no effect on the girls and they are the carriers of this gene.

Types of Spinal Muscular Atrophy

 Types of Spinal Muscular Atrophy depend on the age at which the disease begins. The disease has been classified into three parts. They are Type I, II and III of Spinal Muscular Atrophy. Werdnig Hoffman disease, severe infantile diseases are some of the name of Infantile SMA Type I. This type of SMA commences suddenly after a child’s birth. It attacks the child who is below six months of age. The intermediate SMA also known as Type II SMA commences when a child is between seven to eighteen months of age. The children attacked by this disease are unable to walk and stand. They are only able to seat which is also lost with time. Kugelberg - Welander disease is a popular name of SMA Type III or adult SMA. This type of SMA generally commences when a child is more than eighteen months of age. The child in this case can walk for certain period of lifetime.

Symptoms of Spinal Muscular Atrophy

 The symptoms of spinal muscular atrophy vary with its stages. Some of the symptoms of Type II and III SMA include weakness of muscles, weak cry, problem in swallowing and sucking, difficulty in feeding and loss of the cells in anterior horn. The chances of infection in the respiratory tract are also increased for these weaknesses. A child becomes unable to sit up and lift the head. A duration of man’s life decreases with the advancement made in the appearance of the symptoms. The symptoms appear suddenly as soon as the first symptom appears the motor neuron cells starts malfunctioning. The patients who have been affected by the Type I SMA generally do not survive for more than a couple of years. In rare cases, they become an adult. A person’s ability of thinking and performing sexual activity do not have any affect of SMA.

Treatment of Spinal Muscular Atrophy

 Researches are going on for the treatment of Spinal Muscular Atrophy. Till today there is no proper treatment that can cure this disease completely. No therapy is been found that can repair the damage of the nerve. Respiratory drainage and physiotherapy is necessary for the patients. If any abnormal gene is identified in the family then it is suggested to have a blood test for detecting the carriers of the same gene. Antenatal screen test with the use of chorionic villus sampling or CVS is also available for identifying the gene. Lack of SMN and proteins are identified as the cause of this disease. For this reason, researchers are searching for drugs that could increase the level of SMN and maintain the functions of SMN. Researchers are working on Drugs like riluzole, hydroxyurea, valporic acid and butyrates for curing the disease. Researches are being made for the transplantation of the gene.

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Is there are no treatment for complete cure of this disorder. when technology has developed so much then why no cure for this.
#1 - Gayathri - 07/23/2009 - 00:44
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