5 Rare Diseases In India

There are 256 rare diseases in India. When any specific disease found in 1 in 1000 people is known as a rare disease. Only less than 5% of rare diseases have treatment available.

Duchenne Muscular Dystrophy

It is a genetic disorder characterized by progressive muscle degeneration and weakness due to alteration of protein, known as dystrophin.

This rare disease is more common in males and is symptomized by frequent falls, enlarged calves, trouble in getting up and running, and waddling gait.

Duchenne muscular dystrophy is caused by mutations of the DMD gene on the X chromosome.

DNA tests and muscle biopsy helps to confirm the diagnosis.

There is no cure for Duchenne muscular dystrophy. But some physicians treat it with corticosteroids to reduce pain. Physiotherapy and occupational therapy is the most important part of the treatment to increase muscle strength.

Raine Syndrome

This rare disease is defined by osteosclerosis, periosteal bone formation, and brain abnormalities.

Small nose, low set ears, wide anterior fontanelle, everted lower eyelids and cleft palate are the symptoms of the Raine syndrome.

There are only 10 cases reported in 8 families of this rare disease.

Raine disease is caused by a mutation in the FAM20C gene. And diagnosed with the help of sonography, X-ray, and CT scan.

No specific treatment available for this rare disease, the physician can treat you symptomatically.

Sjogren’s Syndrome

This is a rare autoimmune disease characterized by eyes and mouth dryness. In Sjogren’s syndrome, the main point of attack is healthy cells of the parotid gland and lacrimal gland. 

Sjogren’s syndrome is most found in Rheumatoid Arthritis and Lupus patients. 

Dry mouth, dry eyes, vaginal dryness, and swollen lymph nodes are the main symptoms of Sjogren’s syndrome. 

But the loss of taste, mouth ulcers, fatigue, joint pain, and stiffness also appear in this rare disease.

There is no specific cause for Sjogren’s syndrome.

Important investigation to rule out the rare disease is an antibody test, Schirmer test (eye test), and lip mucosal biopsy.

Sjogren’s syndrome is treated with an immunosuppressant, NSAID (nonsteroidal anti-inflammatory drug), eye drops, artificial tears, and saliva production stimulator.

Alagille Syndrome

It is a hereditary rare disease in which only a few bile ducts are present to drain bile, hence bile builds up in the liver. Which can lead to liver damage.

Alagille syndrome is a very rare disease found in 1 out of 70,000 babies. This disease is caused by JAG1 mutation.

This rare disease is symptomized by yellow skin, yellow eyes, itchy skin, bump in heart skin, prominent wide forehead, and small chin.

Alagille syndrome is diagnosed by liver function test, liver biopsy, renal function test, sonography, and unusual heartbeat.

Treated with medicine to increase bile flow out of the liver, moisturizer, and antihistamine to reduce skin itching. In a few cases surgery to redirect bile and in some cases liver transplants in case of liver failure. 

Cushing Syndrome – 

When your body forms a large amount of cortisol hormone over a long period, Cushing syndrome takes place.

It can be caused by excessive use of steroids and overproduction of cortisol by the adrenal gland.

This rare disease is present with a fatty hump between shoulders, pink and purple stretch marks on the body, fatigue, unwanted hair growth, excessive sweating, and muscle loss.

Cushing syndrome is treated with steroids, some cases may need surgery for removal of tumor and radiation.

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