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:
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:
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.
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