ROHHAD

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ROHHAD

ROHHAD (pronounced: /ˈroʊhæd/), an acronym for Rapid Onset Obesity with Hypoventilation, Hypothalamic dysfunction, and Autonomic Dysregulation, is a rare, life-threatening syndrome that affects the autonomic nervous system and the endocrine system.

Etymology

The term "ROHHAD" is an acronym derived from the primary symptoms of the syndrome: Rapid Onset Obesity (RO), Hypoventilation (H), Hypothalamic dysfunction (H), and Autonomic Dysregulation (AD).

Symptoms

The symptoms of ROHHAD typically appear in early childhood, usually after the first year of life. The most common symptoms include rapid weight gain (obesity), breathing difficulties (hypoventilation), hormonal imbalances (hypothalamic dysfunction), and problems with the automatic (or autonomic) functions of the body (autonomic dysregulation) such as heart rate, blood pressure, and body temperature.

Diagnosis

Diagnosis of ROHHAD is challenging due to its rarity and the wide range of symptoms. It is typically diagnosed based on the presence of the characteristic symptoms and through exclusion of other conditions. Tests may include genetic testing, MRI scans, pulmonary function tests, and endocrine function tests.

Treatment

Treatment for ROHHAD is primarily supportive and focuses on managing the individual symptoms. This may include weight management programs, hormone replacement therapy, and ventilatory support for hypoventilation.

Prognosis

The prognosis for individuals with ROHHAD varies. The condition is life-threatening and can lead to serious complications, including respiratory failure, cardiac arrest, and neurological disorders. However, with early diagnosis and appropriate management of symptoms, individuals with ROHHAD can lead a quality life.

See also

External links

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