August is the month of spinal muscular atrophy.
This is a genetic disease affecting the part of the nervous system that controls voluntary muscle movements. As most of the nerve cells that control the muscles are located in the spinal cord, the affliction is called spinal muscular atrophy (SMA).
This usually passed down through families. When a child manifests SMA it is because it has received two copies of broken gene one from each parent, as a result the child is unable to make the protein that is required by the cells that control muscles. The lack of the protein results in the muscle dying.
If the child receives only one defective gene then the child is a carrier, he/she will not manifest the disease but could pass broken gene to his child.
Type 2 SMA or chronic infantile SMA is seen in children between 6-18 months, symptoms range from moderate to severe, usually involving the legs more than the arms, the child may be able to sit and walk or stand with help.
Type 3 or Kulgelberg-Welander disease also known as Juvenile SMA manifests when the children are 2-17yrs, this is the mildest form of the disease, the child may be able to stand or walk without help, but would have issues running, climbing stairs or getting up from a chair eventually the child may require a wheelchair to get around.
Type 4 manifests in adulthood, there could be symptoms like muscle weakness, twitching or breathing during the younger days. Usually the upper arm and legs are affected. Though the symptoms here are present throughout life, it can be managed with exercises. This particular form presents with a number of variations.
The outlook depends on when symptoms start showing and its severity. With type 1 symptoms manifest any time from birth to 6mnths. Though it is usually visible by age of 3 months. The development is delayed the child may not sit up or crawl. The life expectancy here is usually at the maximum 2yrs. It is possible to make the child’s comfortable with help from doctors and support team.
In all other forms the child can be taught to manage himself/herself by working on easing the symptoms. It is vital to remember that every child or adult with SMA will have a different experience. The treatment plan has to customized to ensure the child has a better quality of life.
Research work is on for newer drugs and treatment options.
Some support sites:
- Amyotrophic Lateral Sclerosis in Physical Medicine and Rehabilitation
- Congenital Muscular Dystrophy
- Congenital Myopathies
- Disorders of Carbohydrate Metabolism
- Emergent Management of Myasthenia Gravis
- Primary Lateral Sclerosis