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Diseases

Genetic and Rare Diseases Information Center (GARD)

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ROHHAD


Other Names for this Disease

  • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation
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Treatment

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How might rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) be treated?

There is no cure or standard treatment for ROHHAD at this time. Nonetheless, early diagnosis and appropriate management can help to decrease morbidity and mortality. Because of the spectrum of organ systems which may be affected in ROHHAD, symptoms may first be noticed by a pediatrician, an endocrinologist, pulmonologist, oncologist, or other pediatric subspecialist. If an affected individual is found to have rapid-onset obesity after 2 years of age, the autonomic nervous system is usually monitored for symptoms of dysregulation. If autonomic dysregulation is confirmed, the person is usually referred for comprehensive respiratory, physiologic, and endocrinologic testing. Pulmonary physicians treating those with clinical features consistent with ROHHAD are encouraged to be aggressive in their assessments, with comprehensive studies conducted during wakefulness and sleep. The child should be monitored at regular intervals to ensure optimal oxygenation and ventilation are achieved.[1] 

In addition, MRI or CT screening of the chest and abdomen for neural crest tumors should be part of the ongoing care of individuals with ROHHAD.[2][1]   
Last updated: 11/28/2011

References
  1. Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE. Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood. Pediatrics. July 2007; http://pediatrics.aappublications.org/cgi/content/full/120/1/e179. Accessed 11/28/2011.
  2. Bougneres P, Pantalone L, Linglart A, Rothenbuhler A, Le Stunff C. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation and neural tumor (ROHHADNET) syndrome in early childhood. J Clin Endocrinol Metab. October 2008; http://jcem.endojournals.org/cgi/rapidpdf/jc.2008-0238v1.pdf. Accessed 11/28/2011.


Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name Follitropin alfa, recombinant
Trade Name
(Manufacturer Name)
Gonal-f®
(EMD Serono, Inc.)
Indication
The FDA has approved this product to be used in this manner.
For the induction of spermatogenesis in men with primary and secondary hypogonadotropic hypogonadism in whom the cause of infertility is not due to primary testicular failure.
More Information about this product Drug Information Portal

Generic Name Gonadorelin acetate
Trade Name
(Manufacturer Name)
Lutrepulse
(Ferring Laboratories, Inc.)
Indication
The FDA has approved this product to be used in this manner.
For induction of ovulation in women with hypothalamic amenorrhea due to a deficiency or absence in the quantity or pulse pattern of endogenous GnRH secretion.
More Information about this product Drug Information Portal

Other Names for this Disease
  • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.