Genetic Disorders

Genetic disorders  Disorders caused by abnormalities in an individual’s DNA  These can be inherited (germ cell) or caused by a mutation (somatic)

Cystic Fibrosis  About  Defective gene causing a thick, buildup of mucus in the lungs, pancreas and other organs.  Lungs: mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure  Pancreas: mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.  Symptoms  Salty skin, persistent coughing, lung infections, wheezing, poor growth, male infertility

Cystic Fibrosis continued  Genetics  Individual must inherit a copy of the defective gene from each parent  Only having one copy = carrier  US  Apx 30,000 people have CF  Apx 1,000 new cases each year  More than 75% diagnosed by age 2  Outcome  Predicted survival age of 40  about-cystic-fibrosis about-cystic-fibrosis

Huntington’s Disease  About  Fatal genetic disorder causing a break down of nerve cells in the brain  Deteriorates a person’s physical and mental abilities  Symptoms  Personality changes, mood swings, and depression  Forgetfulness and impaired judgement  Unsteady gait  Slurred speech, difficulty swallowing, and weight loss

Huntington’s Disease Continued  Genetics  Inherited autosomal dominant  Only one parent has to pass the gene onto their offspring  Stages  Early: subtle changes in coordination, difficulty thinking through problems, depressed, and irritable  Middle: movement disorders, thinking and reasoning difficulties  Late: completely dependent upon others for care, can no longer walk, unable to speak  Death is typically caused by complications of the disease (choking or infection)  US  Apx 30,000 affected 

Down Syndrome  Symptoms  Low muscle tone, small stature, upward slant to the eyes, and a single deep crease across the center of the palm  Genetics  Trisomy 21: a third 21 st chromosome  Caused by nondisjunction  Only 1% have a hereditary component  US  1/691 babies will be born with DS  Apx 400,000  Apx 6,000 babies born with DS each year

Down Syndrome Continued story/

Sickle Cell Anemia  About  Individual receives inadequate amount of oxygen to cells because of the “sickle shape of the cell, carrying less oxygen, and because sickle cells can block blood flow

 Genetics:  Autosomal recessive  Both parents must pass on the recessive copy of the mutated gene th/health- topics/topics/sca/causes

Celiac Disease  About  Autoimmune disorder  Ingestion of gluten leads to damage of small intestine  Body’s immune system will attack the small intestine when gluten comes in contact with it  Damage to SI does not allow proper absorption of nutrients

Thalassemia's  About:  Excessive destruction of red blood cells leading to anemia  Anemia: body has an abnormally low number of RBC  Reduced number of RBC= decrease in hemoglobin= decrease in oxygen delivery throughout body  Most common in people from SE and Central Asia, Mediterranean, Middle East, India, and North Africa  Genetics  Inherited from parents  Both parents must pass the trait onto the offspring 

Fragile X  About  Causes intellectual disability, behavioral and learning challenges, and physical characteristics  Most frequently affects males, and to a greater degree  Does not affect life expectancy  Symptoms  Males: significant intellectual disability, large ears, long face, ADD, ADHD, autism/autistic behaviors, sensory disorders  Females: mild-moderate intellectual disability (2/3)  Genetics  Mutation on the X chromosome  Mother with the permutation has a 50% chance of passing It off to her offspring (because she automatically donates the X chromosome)  If the permutation is passed on, it can remain a permutation of mutate into a full mutation which will cause the offspring to exhibit the symptoms  Father with mutated X xhromosome will always pass it onto their daughter 

Muscular Dystrophy  About  Cause progressive weakness and loss of muscle mass  Proteins needed to form healthy muscle are not produced  Types (Common)  Duchenne Muscular Dystrophy: affects males, symptoms noticed between ages 2-3  Becker MD – milder than DMD, progress slower, symptoms present themselves between teen and mid-20s  Genetics  Inherited or spontaneous mutation  dystrophy#.je27wejxD

Dwarfism (skeletal dysplasia)  About  Causes a reduction in growth hormone production  Symptons/Complications  Delays in motor skills development, such as sitting up, crawling and walking  Frequent ear infections and risk of hearing loss  Bowing of the legs  Difficulty breathing during sleep (sleep apnea)  Pressure on the spinal cord at the base of the skull  Excess fluid around the brain (hydrocephalus)  Crowded teeth  Progressive severe hunching or swaying of the back with back pain or problems breathing  Narrowing of the channel in the lower spine (spinal stenosis), resulting in pressure on the spinal cord and subsequent pain or numbness in the legs  Arthritis  Weight gain that can further complicate problems with joints and the spine and place pressure on nerves

 Genetics  Can inherent from parents: autosomal dominant  OR mutated gene (80% of cases) 