What is SMA?

The Spinal Muscular Atrophy (SMA) is a neuromuscular disease of variable clinical manifestation, that is genetic, degenerative and rare.


To understand better, it is needed to complain that many actions of the human body, as walk, seat, eat and breathe for example, happens thanks to the correct functioning of the muscles, that are controlled by the brain and the spinal cord.


When this connection between the spinal cord and muscles gets compromised, the signals and symptoms of SMA starts to appear.


Although, it is important to emphasize that the neurons responsible for the sensations and pain are not compromised. However, even that the child with SMA has difficulties of movement, she feels touches, warm, cold and pain.


SMA TYPE 1

It is the rarest and common type of the disease and starts to manifest itself at the children even before the six months of life. The main symptoms are:


Breathing difficulties: the paradoxical breathe and the breathing insufficiency are the main causes of mortality;


Motor difficulties: patients with SMA type 1 does not develop the capacity of seat without support and and have the loose of the major part or their movimentation still on the first month of life.


Feeding difficulties: the involvement of the tongue and pharynx muscles causes the lost of the suction when breastfeeding and dysphagia, what can cause nutritional deficiency and bronchopneumonal risks of repetition.


LIFE EXPECTATION

In the case that no treatment action are taken, about 68% of the patients dies before two year of life, and 84% before their four years old. The care adoption on respiratory and nutritional proactives can reduce the mortality before two year to 30%.

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