MUSCLE ATROPHY

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Spinal muscular atrophy - SMA 1

the number one genetic cause of death for infants below two years of age, is one of genetic and fatal diseases. It is a neuromuscular disease that causes a gradual weakening of muscles, taking away the ability to move. The progress of the disease is individual and depends on many factors.
Common tests in pregnancy will not diagnose SMA. Only tests targeting directly SMA in the unborn child can confirm or rule out the disease. Every 40th person is a carrier of the disease. On average, one newborn in 6,000 suffers from SMA. SMA can strike at any age, any sex or ethnic origin. We distiguish four types of the disease.

Muscle atrophy type 1


SMA 1 is also knows as Werdnig-Hoffmann disease. It is ususally diagnosed in children by the third month of their age when a lack of mobility and weakness can be observed. The child cannot hold its head up, cannot raise their legs or arms, cannot roll to the side, cannot turn its head, the facial muscles are weak. The child cannot swallow its food, liquids or saliva, even the tounge is atrophied, the child has no strength to breathe, its voice is weak or absent altogether, it cannot cough, the whole body is limp. In the following months the child cannot sit, crawl, walk, run, the ligaments and tendons become shortened, there is a hightened risk of fractures, and scoliosis develops as the child grows.
The child’s intellect is unaffected, though, its thinking is clear, it is aware of everything. Children suffering from SMA Type 1 are actually often mentally more ballanced than healthy children of the same age. They are strong-minded and very intelligent: maybe their brain works in top gear because of the inability to move. Even though a child with SMA 1 is “imprisoned“ in its own body, it can feel every touch, its sensory perception and sensitivity of the skin are not affected whatsoever. It is therefore important to provide physical therapy, massages, to change the lying position, and to stretch muscles regularly.
To help the impaired breathing it is necessary to connect to an artificial ventilation, an apparatus that can breath on behalf of the child around the clock. Today, there are apparatuses that can be used in the child’s home, are portable, even though the limited capacity of the battery makes it difficult for the child to be away from the source of electricity.

A child with SMA 1

usually has to undergo gastrostomy to be able to get nutrition.
For the child to survive, it needs other vital instruments and aids. Some of them control vital functions, others perform tasks the afflicted child cannot manage on its own. There are a number of medical accessories and supplies necessary to secure the child’s better health, prevent bed sores, make the child more comfortable and provide the necessary feeling of security, which is very important. Unfortunately, a large part of these supplies are not covered by medical insurance making the families of these children dependent on the help of relatives and philanthropists. A child with SMA 1 dependent on a breathing machine needs continuous care that can be provided only by a person trained in all the necessary medical tasks and nursing care, a person that can work all the medical equipment and resolve any problems that may occur in running the machines.

SMA and Therapy


Alhough there is currently no approved treatment for SMA, there’s great reason for hope. The good news is that researchers, especially in the USA, are working on it. A great hope is gene therapy. Czech children with SMA1, although in the worst stage of the disease where time is of the essence, will have to wait for this type of therapy for a while.
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SPINAL MUSCULAR ATROPHY TYPE 1 - SMA 1

MUSCULAR ATROPHY IS ALSO CALLED

SMA

SPINAL MUSCULAR ATROPHY

SMA I

SMA II

SMA III

SMA IV

MUSCULAR ATROPHY

WERDNIG HOFFMANN

MYOPATHY

NEUROMUSCULAR DISEASE

MUSCLE ATROPHY

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