Hello everyone, just as suggested in the title, this is a first in the rare disease series blog. I'm not yet sure how many I would be writing with, but I hope you all can learn something informative from this. Though these diseases are very rare ones, a little knowledge and preparedness for anything like this around us would not hurt, right?

'Achalasia' as the term suggests is a very rare and uncommon disease. In today's blog let us look into what ‘Achalasia’ actually stands for.

‘Achalasia’ is a very rare and uncommon disease that is very rarely heard unlike the buzzwords such as cancer, TB, Flu, etc. It is a rare disease that makes swallowing/ passage of food and liquid difficult from the swallowing tube (esophagus) into the stomach. It prevents the opening of the lower esophageal sphincter and reduces contraction or peristalsis. It causes the food to be swallowed to lead back up into the esophagus. Let us further look into the signs, symptoms, causes, and treatment options (if any).

SYMPTOMS:

Common signs of identifying if achalasia exists are as follows:

• Dysphagia (Difficulty in swallowing)
• Pain and swelling in the chest
• Regurgitation of food and liquids
• Weight loss
• Heartburn

CAUSES:

The exact and specific cause of achalasia is yet unknown and further study is required to identify the exact reasons for it. Achalasia usually occurs due to the degeneration of the nerves of the esophagus. It could also be hereditary or a sort of autoimmune disorder.

COMMONLY AFFECTED POPULATION:

Achalasia usually is more common in people with autoimmune disorders. It usually occurs in middle and old-aged populations, but can however occur in children as well. It usually occurs in people within the age group of 25-60 years. Studies have shown that in case the cause is hereditary then it occurs twice the time in males than in females.

TREATMENT OPTIONS:

First-line treatment option: Dilation or alteration of the sphincter.  Usually, pneumatic dilation is preferred wherein a balloon is inserted into the esophagus and inflated so that the esophagus stretches causing relaxation of the esophagus improving the function considerably. However, in the long run, this can cause problems as due to forced dilation sometimes the sphincter can tear, requiring further surgery. Other first line treatment options include nitrates and calcium channel blockers.

Other treatment options:  Esophagomyotomy - a type of surgery wherein alteration of the sphincter can be done facilitating better esophagus function. Some side effects include heart burn and gastroesophageal reflux disease (GERD).

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