"SPINAL MUSCULAR ATROPHY"
Now, the word in itself sounds heavy, serious, and complicated. So, what is it?
Spinal muscular atrophy or SMA as it is known is a group of diseases caused due to genetic factors that lead to weakness and wasting in the voluntary muscles of infants, children, and more rarely, adults. It is one of the most common genetic conditions affecting children and is commonly caused due to inadequate production of the Survival motor neuron (SMN) protein. The SMN protein is important to the motor neurons of the body assisting in motor activities such as walking, running, and even swallowing and breathing!
Now that we’ve learned what SMA is, let’s know about the various types of SMA…
Major types of SMA
– Type 0 is the rarest and most critical form of SMA. It emerges while in pregnancy. Newborns with this class of SMA mobilize less in the womb and are born with joint difficulties, weak muscle condition, and weak muscles for breathing. They oftentimes do not sustain due to breathing problems.
– Type 1 is the commonest and the most popular type of SMA. It can be seen amongst children up to six months age. It leaves children with very little mobility and severe respiratory infections which mostly leads to death by the age of two.
– Type 2 is the intermediate form of the condition and it is seen between the ages of seven to eighteen months. It usually invades the child’s legs more than their arms. Life expectancy ranges from early childhood to adulthood.
– Type 3 is the mild form of SMA and is also called Juvenile Spinal Muscular Atrophy. The symptoms first appear from the age of 18 months to early adulthood and patients can stand and walk but occasionally have trouble getting up, from a sitting position. They mostly have a life expectancy that’s close to normal
– Type 4 is the adult form of SMA and symptoms do not appear until the second or third decade of life leading to slow progressive muscle weakness.
Who gets spinal muscular atrophy?
- Individuals of any race or gender can get influenced by spinal muscular atrophy. Additionally,
- One in every 40 people carries the gene that originates SMA.
- A descendant of two gene carriers has a 25 per cent probability of being born with spinal muscular atrophy.
- One-Seventy-five million individuals are estimated to be carriers of the spinal muscular atrophy gene.
- More than 65,000 Indians are assumed to suffer from spinal muscular atrophy.
Causes of Spinal Muscular Atrophy
SMA is a condition that’s carried down into families. If the child has SMA, it’s because they have two images of a divided gene, one of each parent.
When this occurs, their body won’t be able to obtain a particular class of protein. Without it, the cells that control muscles mostly die.
If the child gets a broken gene from just one of the parents, they won’t get SMA but will be a bearer of the condition. When your baby grows up, they could transfer the recessed gene to their offspring.
Spinal Muscular Atrophy Diagnosis
Spinal Atrophy of Muscles can be tough to diagnose as the signs may be similar to other ailments. To help conclude what’s going on, the doctor might ask you:
- Has the baby abstained any developmental milestones, such as holding their head up or rotating over?
- Does your child have difficulty sitting or standing on their own?
- Does your child face occasional muscle strain?
- Have you noticed your baby have trouble breathing?
- When did you notice the symptoms for the first time?
- Has anyone in your house had comparable symptoms?
Questions for Your Doctor
- Have you treated others with this ailment?
- What strategies do you recommend?
- Is there healing that can nourish and keep my child’s muscles strong?
- What can I do to help my child grow more self-sufficient?
- How can I get in touch with others who have family members with Spinal Muscular Atrophy?
Spinal Muscular Atrophy Support
Organizations like these can offer you support:
Cure SMA. It funds studies aimed at tackling and curing SMA. Its Smart Moves drive converges on the consequence of early diagnosis and treatment. Cure SMA also offers assistance for people and families through local divisions and its website, including offering information to those lately diagnosed.
Muscular Dystrophy Association. This group has various panel experts and ties to assistance and relief groups in various region.
SMA Foundation. Its purpose is to support the research for SMA therapy, working with researchers, advancing clinical trials, and supporting to educate others about this genetic condition.
While there is no cure yet for this condition and it can be surprisingly scary and emotionally hurting to see your child go through such a thing. But there are ways to control the symptoms of the diseases. The best way to do that is to catch it early. If you see any of the early stage symptoms in your child or any other family member then it may be the time for you to seek medical assistance.
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