ROHHAD: The next ‘Ebola’ of the World

By Atul Chavan - 4:16 PM

On 14th September 2014, a 5 year old girl in Mumbai was reported with  a life threatening disease called ROHHAD (Rapid onset obesity with  hypothalamus dysfunction, hyperventilation and autonomic dysregulation).  It is a rather rare disease, with only 100 cases are known all around  the world till date and India’s first ever case of ROHHAD.
In humans breathing is controlled by the hypothalamus but ROHHAD is  an overlapping disease which causes genetic mutation in the patient,  thus damaging the proper mechanism of proper breathing. Any person  suffering from the disease cannot control his or her breathing.  Currently there is no cure of ROHHAD and the medication given to the  patients is experimental therefore making it potentially lethal and  incurable.
his is then followed by hypothalamic dysfunction, when the hypothalamus does not function properly.
At this point, the following symptoms begin to persist:

  • Rapid increase in weight in a short amount of time.
  • Hypothyroidism, which causes fatigue, changes in skin and hair, weight gain and intolerance of the cold.
  • Insufficient production of growth hormones.
  • Diabetes insipidus.
  • Inappropriate anti-diuretic hormone.
  • Diminished or excess thirst due to water/salt imbalance.

Hypoventilation is the next symptom during which the breathing and lung function is affected.

Autonomic dysregulation is the next set of symptoms to follow. These  symptoms cause the impairment of the autonomic nervous system and they  include:
  • Altered sweating.
  • Decrease in body temperature.
  • Decreased sensitivity to pain.
  • Decrease in heart rate.
  • Severe diarrhea or constipation.
Currently this rare syndrome does not have any proper tests or treatments.

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