The underlying cause behind SMA is a missing or severely mutated gene known as SMN1, which produces a protein called SMA. This protein is needed for humans to have healthy motor neurons that act as connections for the spinal cord to signal muscles throughout the body. Without the SMN protein, our nerve cells begin the process of atrophy and would eventually die, causing the symptoms of weak, limp muscles. To cure or bring betterment into the disease and its progression, a lot of research have been brought to surmise; according to findings, here are a few of the ways through which changes can be brought into the disease.
Stem Cell Therapy
Are introduced to replace the affected motor units, but their application for this disease is yet to be explored. Various types of pluripotent stem cells are being tested, including the one produced from the patient’s fibroblasts which could ensure immunologic and gene compatibility with the patient’s condition. Stem Cell Care India is one of the most prime institutions providing Stem Cell Therapy
Small Molecular Therapy
The therapy consists of increasing the SMN2 expression through medication or gene therapy. It increases the amount of full-length SMN mRNA and, therefore, the amount of SMN protein produced in the patient’s body. Molecules that have been tested with little success include histone deacetylase inhibitors, aminoglycosides and quinazoline compounds, which, while under research, increased full-length SMN transcription in mouse models but not in human clinical trials.
Antisense oligonucleotide ( ASO therapy is used to increase the rate of inclusion of exon 7 into the mRNA transcripts of SMN2. These are RNA sequences which bind the complementary sequences in an intron or exon of interest splicing silencer N1 in SMN2, an ASO which blocks the intronic repressor element1, and one which targets the junction of intron 7 and exon 8 but also increases the activity of hnRNP-A1 preventing exon8 inclusion whilst increasing exon7 inclusion..
Viral-medicated gene replacement therapy
Under this therapy use of vectors was demonstrated by the adenovirus-associated viral vector serotype9 in baby mice in research which increased the SMN1 expression by 60% and increased their life span by a period of about 400 days. Time is of the essence in these therapies as an early institution of such treatment is essential for normalizing the health of the motor neurons before the critical point when they are doomed to undergo apoptosis.
Supportive care is essential in prolonging the lifespan of SMA patients, especially those with severe motor neuron loss. Such patients would suffer from problems such as
- Respiratory distress and aspiration pneumonia
- Nutritional deficiencies due to feeding difficulties because of weak sucking, swallowing and chewing actions.
- Progression of the disease can also lead to secondary kyphoscoliosis and joint contractures because of weak antigravity muscles.
- Rehabilitation because of inability to stand or walk independently in all but the mildest cases
- Emotional distress and social problems.
Respiratory care is one of the most important parts of management for patients suffering from SMA. With the progression of the disease, the muscles involved with breathing break down and lead to difficulties in breathing. Patients should be provided help to maintain muscle tone in the torso to help in breathing effectively.