I want detail about s.m.a. (spinal muscular atrophy). Please give me answer with its treatment , because my child born with that disease. What reason for this condition and where and when we create the plane for new baby.

Dr. Sajeev KumarGeneral Physician32yrs exp

90% (21577 ratings)

Ask Free Question

SMA (spinal muscular atrophy) is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. It is the number one genetic cause of death for infants. SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1. Chromosome 5 SMA is caused by a deficiency of a motor neuron protein called SMN, for ?survival of motor neuron.? This protein, as its name implies, seems to be necessary for normal motor neuron function. Its deficiency is caused by genetic flaws (mutations) on chromosome 5 in a gene called SMN1. Neighboring SMN2 genes can in part compensate for nonfunctional SMN1 genes. Other rare forms of SMA (non-chromosome 5) are caused by mutations in genes besides SMN. In several forms of SMA, respiratory muscle weakness is a significant problem. It?s the most common cause of death in types 1 and type 2 chromosome 5 (SMN-related) SMA. When the respiratory muscles weaken, air doesn?t move into and out of the lungs very well, with subsequent adverse effects on general health. Signs of weakening respiratory muscles are headaches, difficulty sleeping at night, excess sleepiness during the day, poor concentration, chest infections and, eventually, heart damage and respiratory failure. Often, in infantile-onset SMA, the muscles between the baby's ribs are very weak, while the diaphragm muscle stays fairly strong. This leads to children who appear to be breathing by moving their bellies rather than their chests and to a pear-shaped body in these infants. For chromosomal changes there is hardly no specific treatment and you have to explain the nature of your child's trouble . He needs a neurological treatment for relief of symptoms. 

2 person found this helpful