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Prader–Willi syndrome

From Wikipedia
Prader–Willi syndrome
designated intractable/rare disease, rare disease, class of disease
Subclass ofchromosomal disease, syndrome, syndromic obesity, disease Edit
Dem name afterAndrea Prader, Heinrich Willi Edit
Health specialtymedical genetics, pediatrics, neurology Edit
Drug or therapy used for treatmentsomatrem Edit
Genetic associationSNRPN, NDN Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/4768 Edit
ICD-9-CM759.81 Edit
NCI Thesaurus IDC75463 Edit

Prader–Willi syndrome (PWS) be a rare genetic disorder wey be caused by a loss of function of specific genes on chromosome 15.[1] Insyd babies, symptoms dey include weak muscles, poor feeding, den slow development.[1] Beginning insyd kiddie time, those wey be affected cam be constantly hungry, wich often dey lead to obesity den type 2 diabetes.[1] Mild to moderate intellectual impairment den behavioral problems sanso be typical of de disorder.[1] Often, affected individuals get a narrow forehead, small hands den feet, short height, den light skin den hair. Chaw be unable to get kiddies.[1]

About 74% of cases dey occur wen part of de poppie ein chromosome 15 be deleted.[1] Insyd anoda 25% of cases, de affected person get two copies of de maternal chromosome 15 from de mommie den dey lack de paternal copy.[1] As parts of de chromosome from de mommie be turned off thru imprinting, dem dey end up plus no working copies of certain genes.[1] PWS no be generally inherited, buh rada de genetic changes happen during de formation of de egg, sperm, anaa insyd early development.[1] No risk factors be known for de disorder.[2] Those wey get one kiddie plus PWS get less dan a 1% chance of de next kiddie be affected.[2] A similar mechanism dey occur insyd Angelman syndrome, except de defective chromosome 15 be from de mommie, anaa two copies be from de poppie.[3][4]

Prader–Willi syndrome get no cure.[5] Treatment fi improve outcomes, especially if e be carried out early.[5] Insyd newborns, feeding difficulties fi be supported plus feeding tubes.[6] Strict food supervision typically be required, wey dey start around de age of three, in combination plus an exercise program.[6] Growth hormone therapy sanso dey improve outcomes.[6] Counseling den medications fi help plus sam behavioral problems.[6] Group homes often be necessary insyd adulthood.[6]

PWS dey affect between 1 insyd 10,000 to 30,000 people worldwide.[1] More dan 400,000 people dey live plus PWS.[7]

References

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  1. 1 2 3 4 5 6 7 8 9 10 "Prader-Willi syndrome". Genetics Home Reference. June 2014. Archived from the original on August 27, 2016. Retrieved August 19, 2016.
  2. 1 2 "How many people are affected/at risk for Prader-Willi syndrome (PWS)?". NICHD. January 14, 2014. Archived from the original on August 27, 2016. Retrieved August 20, 2016.
  3. ↑ "Prader-Willi Syndrome (PWS): Other FAQs". NICHD. January 14, 2014. Archived from the original on July 27, 2016. Retrieved August 19, 2016.
  4. ↑ "Angelman syndrome". Genetic Home Reference. May 2015. Archived from the original on August 27, 2016. Retrieved August 20, 2016.
  5. 1 2 "Is there a cure for Prader-Willi syndrome (PWS)?". NICHD. January 14, 2014. Archived from the original on August 27, 2016. Retrieved August 20, 2016.
  6. 1 2 3 4 5 "What are the treatments for Prader-Willi syndrome (PWS)?". NICHD. January 14, 2014. Archived from the original on August 10, 2016. Retrieved August 20, 2016.
  7. ↑ Tweed, Katherine (September 2009). "Shawn Cooper Struggles with Prader Willi Syndrome". AOL Health. Archived from the original on September 9, 2009. Retrieved September 9, 2009.
[edit | edit source]
  • , International Prader-Willi Syndrome Organisation
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