Even with the growing medical technology of today, many diseases continue to occur and are difficult to cure. Especially in India, many rare diseases like Gullian Syndrome affect people from all strata of life. The rarer the disease, the higher the medical bills.
Crowdfunding initiatives for these rare diseases is growing in India which is slowly creating awareness for them. However, as citizens we should be informed about these diseases in advance so that we can help our friends, family or people in need who might be going through the same situation. Below are four rare genetic diseases that affect people in India.
1.SMA – Spinal Muscular Atrophy
Spinal Muscular Atrophy is a genetic spinal cord disorder which makes the muscles degenerate or weak. It is a genetic disease that affects the nerve cells in the spinal cord.
- Symptoms: Muscle weakness, difficulty walking, swollen feet, frequent falling, difficulty sitting, standing, climbing, etc., and difficulty breathing.
- Causes: It is caused by a defect in the gene that produces the protein dystrophin. This defective gene is passed on by the mother’s X chromosome.
- Treatment: There is no cure for DMD, but some therapies can help ease movement.
2.DMD – Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy or DMD is similar to Spinal Muscular Dustrophy. It is also a genetic disorder which causes progressive muscle degeneration in the body of the affected person.
- Symptoms: Muscle weakness, difficulty walking, swollen feet, frequent falling, difficulty sitting, standing, climbing, etc. and difficulty breathing.
- Causes: It is caused due to a defect in the gene that produces protein dystrophin. This defected gene is passed on by mother’s X chromosome.
- Treatment: There is no cure for DMD but some therapies can help in the ease of movement.
3.ALS – Amyotrophic Lateral Sclerosis
Illnesses formed in the spinal cord or brain nerves are seldom the ones that have a definite cure or treatment. ALS is another muscle degenerating disease that affects nerve cells. It is also known as Lou Gehrig’s disease.
- Symptoms: Muscles weakness and twitching, difficulty walking, standing, sitting, weakness in hands, clumsiness, speech and breathing difficulties.
- Causes: Amyotrophic Lateral Sclerosis can happen genetically or even randomly.
- Treatment: Medicines are available to help with some development, but the full cure remains undiscovered.
4.Neuroblastoma
Neuroblastoma is a type of cancer that is formed in the nerve tissues or neuroblasts of the spinal cord, adrenal glands, chest, or neck region.
- Symptoms: Visible lumps in the neck, chest, or abdominal region, body pain, diarrhea, loss of appetite, fatigue, etc.
- Causes: It is usually passed on by genetics or mutation causes.
- Treatment: Like other types of cancer treatments, Neuroblastoma is treated with chemotherapy, surgery, or radiation therapy.
When the illness is genetic, it can become difficult to avoid or prevent someone from developing it. However, most doctors recommend following a healthy lifestyle and getting regularly screened for diseases that are especially known to run in the family.
We should always keep ourselves updated about these disorders, their symptoms, and their causes and spread awareness about them so people in these situations can feel supported and others can potentially prevent or detect the disease early and save their lives.