Spinal muscular atrophy (SMA) is a genetic condition which affects the nerves that control muscle movement – the motor neurons.
It is named 'spinal' because most of the motor neurons are located in the spinal cord. 'Muscular' is in the name because it primary affects the muscles which don’t receive signals from the motor neurons. ‘Atrophy’ is the medical term for wasting away or getting smaller, which is what generally happens to muscles when they’re not active.
The symptoms of SMA type 1 include:
Muscle weakness and poor muscle tone
Poor head control
Weak cry and cough
The legs tend to be weaker than the arms
Swallowing and feeding difficulties
Increased susceptibility to respiratory tract infections
Developmental milestones, such as lifting the head or sitting up, can’t be reached.
Children with SMA type 1 are diagnosed usually before 6 months of age, more often before 3 months of age. Symptoms may even start in the womb - many mothers later recall the baby not moving as much the last month or so of pregnancy. They are not able to hold up their heads, roll over, crawl, sit up without support, or walk. All of their muscles are extremely weak, with the weakest muscles being the legs, upper arms, and neck. Their body may appear bell-shaped - concave, or very skinny at the top, with a big belly. The strongest breathing muscle in infants with SMA type 1 is the diaphragm and as a result, they appear to breathe with their stomach muscles. SMA affects all muscle systems including sucking, swallowing, digesting food, and excretion.
Generally speaking, the child’s survival depends on the age of onset of the condition. The earlier the symptoms appear, the shorter the expected life-span.
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