PraderWilli Syndrome Kalena Spinola Description A cogential present

Prader-Willi Syndrome Kalena Spinola

Description A cogential (present from birth) disease, affecting many parts of the body. People with this condition are often obese, have reduced muscle tone, mental ability, and produce little or no sex hormones.

Symptoms • Physical • o Almond Shaped Eyes o Short Stature o Small Hands & Feet Behavior Problems o Obsessive/Compulsive Actions o Depression o Quick Temper

Symptoms • Infants-Childhood o Weak Muscle Tone o Trouble Eating o Sleep Abnormalities o Body Temperature o Delayed Motor Development o Mental Retardation

Symptoms • Adolescence-Adulthood • o Delayed Puberty o Obesity o Food Cravings Leads to: o Diabetes o High Blood Pressure o Joint/Lung Problems

Effecting Traits • Population o Occurs in all Races o Effects Male & Female • Affects 1 in 10, 000 -25, 000 births • Life Expectancy Normal

Inheritance • Chromosome 15 Deletion o Locus: 15 q 11 -q 13 • Alterations o Chromosome Partial Deletion of Entire Chromosome § Maternal Disomy o Imprinting Defect Chromosome

Reproduction • Spontaneous genetic disorder • Random occurance • Reproduction is normal

Causes • Normal Development Depends on Chromosome 15 • Effects Hypothalamus Region o registers feelings of hunger • Lack of muscle mass o Fewer calories burned-Obesity

Treatments/Cures • No Whole Cure • Various Therapies o Physical, Speech, Occupational, etc • Special Feeding TEchniques • Strict Diet/Weight Control

Additional Information • Most common genetic cause of obesity • Can be detected before birth • PWS-like disorder can be developed

Resources http: //www. pwsausa. org/ http: //www. ipwso. org/