GENETIC DISORDER by Suhaina NDa

Genetic

DISORDER

ind

MONOGENIC DISORDERS Autosomal Ressessive 1 Cystic Fibrosis 2 Sickle Cell Anemia 3 Phenylketonuria 4 Albinism 5 Tay-Sachs

4 5 6 7 8

Autosomal Dominant 1 Huntington Disease 2 Neurofibromatosis

9 10

3 Polycystic Kidney Disease

4 Spherocytosis

5 Marfan Syndrome

Sex-linked 1 Hemophilia A

14-15

2 Swyer Syndrome

16-17

3 Rett's Syndrome

18-19

dex

POLYGENETIC DISORDERS

1- Infertility

20-21

2- Hypertension

3- Diabetes

4- Alzheimer's Disease

24-25

5- Coronary Heart Disease

26-27

CHROMOSOMAL ABNORMALITIES Numerical Abnormalities 1- Down Syndrome

28-29

2- Klinefelter Syndrome

30-31

3- Turner Syndrome

32-33

Structural Abnormalities 1- Cri du Chat

34-35

2- Pallister Killian Syndrome

36-37

3- Angelman Sndrome

38-39

Cystic Fibrosis It is a genetic disorder that can be passed from parents to their children. It affects the body when producing mucus. It becomes more thick and glue-like and it block tubes and ducts throughout the body.

Symptoms Hard time with bowel movements Trouble with breathing Frequent lung infections Infertility Trouble growing or gaining weight

Causes

It cause by change or mutation in a gene called cystic fibrosis transmembrane conductance regulator. This gene controls the flow of fluids in our cells. If CFTR doesnâ&#x20AC;&#x2122;t work properly it builds up sticky mucus inside the body.

Treatment There is no cure for cystic fibrosis and it cannot be prevented. However, new treatment methods help children who have CF live well into adulthood and have a better quality of life.

Antibiotics Anti-inflammatory medicines Mucus thinners Bronchodilators CFTR modulators

Prognosis It is a progressive condition that it continues to get worse over time. Most children with CF stay in good health until they reach adulthood. Lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with CF who live to adulthood is about 37 years. But because of the advances in treatment for cystic fibrosis has considerably improved in recent years.

Sickle Cell Anemia Description It is adisorder that associated with acute illness and progressive organ damage. It causes the blood cells to be stiff and it results for them to difficult to move in oxygen circulation in the body.

Treatments Supplemental oxygen given through a mask Blood transfusions

Prognosis

Symptoms Pain in chest, back, arms or legs Swelling pain in hands and feet Immoderate fatigue Yellowing of eyes and skin

Causes It is caused by gene mutation that instructs your body to make iron-rich compounds which cause the redness of the blood. In sickle cell anemia, the excessive hemoglobin causes the red blood cells to become sticky and rigid.

Stem cell transplant Home care: drink more water, exercise regularly, and take folic acid medicine, heating pads for pain relief

Person diagnosed with sickle cell anemia have a reduced life expectancy. Person who have the disorder can have it without any symptoms for years. Treatment for the Sickle Cell anemia are improving the life expectancy of a patient.

Phenylketonuria It is a rare genetic condition that causes an amino acid called phenylalanine to build up inside our body. It is caused by a defect in the gene that helps create phenylalanine hydroxylase. If the enzyme if missing, the body cannot breakdown phenylalanine and causes buildup of phenylalanine in body.

Causes

Phenylketonuria is inherited condition caused by defect in the phenylalanine hydroxylase. A dangerous buildup of phenylalanine can occur when eating high-protein foods, such as eggs and meats. Both parents must pass the defective gene to their child to inherit the disorder. If one parent passes on a defected gene the child wonâ&#x20AC;&#x2122;t get the disease by they will be a carrier of the gene.

Symptoms

Seizures Tremors, or trembling and shaking hyperactivity skin conditions such as eczema stunted growth

Treatment

Diet with limited amount of protein

Prognosis The long-term outlook for person with Phenylketonuria is great if they follow a Phenylketonuria meal plan closely and shortly after birth. When diagnosis and treatment are delayed, brain damage may occur. This can lead to intellectual disabilities by the childâ&#x20AC;&#x2122;s first year of life. This can lead to other disabilities of the child such as delayed development behavioral and emotional problems, and neurological problems.

Albinism

it is a rare genetic disorder that causes the skin, hair, or eyes to have a little or sometimes no color. It is also associated with vision problems.

Sign and Symptoms

Absence of color in hair, skin, or eyes Lighter than normal color of hair, skin, or eyes

Causes

Absence of color in hair, skin, or eyes Lighter than normal color of hair, skin, or eyes

Treatment

There’s no cure for albinism. However, treatment can relieve symptoms and prevent sun damage. Sunglasses to protect the eyes from the sun Protective clothing and sunscreen to protect the skin from UV rays Eyeglasses to correct vision problems Surgery on the muscles of the eyes to correct abnormal eye movements

Prognosis

It doesn’t affect the life span of the patient diagnosed with albinism. Person with albinism have to limit their outdoor activities because their skin and eyes are very sensitive to the sun’s UV rays. It can cause skin cancer and vision loss in some people with albinism.

Causes

TaySachs

Tay-Sachs disorder is a genetic disorder that is passed from parents to their child. It happens when a child inherits the defective gene from both parents. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells.

Treatment

There is no cure for Tay-Sachs. Treatment usually includes of keeping the child comfortable called palliative care. It includes medication such as for pain, antiepileptics to control seizures, physical therapy, feeding tubes, and respiratory care to reduce mucus buildup in the lungs.

It is a rare disease that is passed down from parent to their child. It is caused by absence of an enzyme the helps break down of fatty substances called gangliosides. It build up to toxic levels in the child's brain and affect the function of the nerve cells. It may lead to blindness, paralysis, and even death if the Tay-Sachs disease is a progressive disease progresses. neurodegenerative disorder. The classic infantile form is usually fatal by age 2 or 3 years. Death Loss of motor skills usually happens due to Seizures intercurrent infection. Death Vision and hearing loss usually occurs by the age of 10 to Movement problems 15 years old and begins in some Muscle weakness years of vegetative state with Cherry-red spots in the eyes decerebrate rigidity.

Prognosis

Symptoms

HUNTINGTON DISEASE

CAUSES

SIGNS AND SYMPTOMS

Slight uncontrollable movements

A normal copy of the

Small changes in coordination and

gene produces huntingtin,

clumsiness

a protein. The faulty gene

Stumbling

is larger than it should be. This

leads

excessive

production

cytosine,

and

guanine

adenine,

Lack of focus Lapses in short-term memory Depression Irritability

(CAG), the building blocks of DNA. Normally, CAG repeats between 10 and 35 times, but in HD, it repeats from 36 to 120 times.

repeats

times or more, symptoms are

likely.

This

change

results in a larger form of huntingtin. This is toxic, and, as it accumulates in the

brain,

damage Some

causes

brain

cells

cells. are

sensitive to the larger form of huntington, especially

TREATMENT HD is currently incurable.

There is no treatment that

movement, thinking, and

can reverse its progression

memory.

or slow it down. However,

those

their

related It

undermines

function

and

eventually destroys them. Scientists

are

not

sure

exactly how this happens.

some symptoms can be managed with medication and therapies.

PROGNOSIS Huntington’s disease causes disability that gets worse over time. Currently no treatment is available to slow, stop, or reverse the course of HD. People with HD usually die within 10 to 30 years following symptom onset, most commonly from infections (most often pneumonia) and injuries related to falls.

NEUROFIBROMATOSIS

Neurofibromatosis, neurofibromas. Skin-colored soft papules and nodules on the back are neurofibromata appearing in late adolescence in a patient with neurofibromatosis. A genetic disorder of the nervous system that primarily affects the development and growth of neural (nerve) cell tissues, causes tumors to grow on nerves, and may produce other abnormalities. Neurofibromatosis consists of two very different disorders: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2).

PROGNOSIS

Neurofibromatosis-1 (NF1) is an inherited disorder in which nerve tissue tumors (neurofibromas) form in the: Bottom layer of skin (subcutaneous tissue) Nerves from the brain (cranial nerves) and spinal cord (spinal root nerves) The long-term outlook (prognosis) for people with neurofibromatosis type 2 (NF2) varies based on a number of factors, including the age at which symptoms develop; the degree of hearing deficit; and the number and location of various tumors. On average, people affected by NF2 begin showing symptoms of the condition in their late teens to early twenties (onset range: birth to 70 years) and almost all affected people develop bilateral (affecting both sides) vestibular schwannomas by age 30 years. The size, location, and number of tumors can vary significantly from person to person. Although the tumors associated with NF2 are generally benign, they can interfere with quality of life and lead to early mortality due to their location and quantity. The average age of death in people with NF2 is 36 years. However, survival is improving with earlier diagnosis and better treatment in specialty centers.

TREATMENT

Neurofibromatosis can't be cured, but treatments can help manage signs and symptoms. Generally, the sooner you or your child is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.

CAUSES

Neurofibromatosis is caused by genetic defects (mutations) that are either passed on by a parent or occur spontaneously at conception. The specific genes involved depend on the type of neurofibfromatosis: NF1. The NF1 gene is located on chromosome 17. This gene produces a protein called neurofibromin that helps regulate cell growth. The mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrolled. NF2. The NF2 gene is located on chromosome 22, and produces a protein called merlin (also called schwannomin), which suppresses tumors. The mutated gene causes a loss of merlin, leading to uncontrolled cell growth. Schwannomatosis. So far, two genes are known to cause schwannomatosis. Mutations of the genes SMARCB1 and LZTR1, which suppress tumors, are associated with this type of neurofibromatosis.

Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large.

Causes

A gene mutation, or defect, causes PKD. In most PKD cases, a child got the gene mutation from a parent. In a small number of PKD cases, the gene mutation developed on its own, without either parent carrying a copy of the mutated gene. This type of mutation is called “spontaneous.” Read more about genes and genetic conditions.

Treatment

There

ADPKD,

but

cure a

for

new

treatment is available that has been show to slow the progression of ADPKD to kidney failure.

POLYCYSTIC KIDNEY DISEASE

Signs and Symptoms In many cases, ADPKD doesn’t cause signs or symptoms until cysts are a half inch or larger in size. For this reason, you should meet with a health care provider if you are at risk for PKD before your symptoms start. The most common symptoms are pain in the back and sides, between the ribs and hips, and headaches. The pain can be short term or ongoing, mild or severe. Hematuria, or blood in the urine, may be a sign of ADPKD. If you have hematuria, see a health care provider right away.

Prognosis

By age 75, 50 to 75% of patients with autosomal dominant polycystic kidney disease (ADPKD) require renal replacement therapy (dialysis or transplanta tion). On average, glomerular filtration rate (GFR) declines by about 5 ml/min/year after the fourth decade of life. Predictors of more rapid progression to renal failure include the following: Earlier age at diagnosis Male sex Sickle cell trait PKD1 genotype Larger or rapidly increasing kidney size Gross hematuria Hypertension Being black Increasing proteinuria

HEREDITARY

SPHEROCYTOSIS

SIGNS AND SYMPTOMS Anemia. Paleness (pallor) Jaundice (especially in children) Intermittent jaundice (more often in adults) Enlarged spleen (splenomegaly; a majority of all patients with spherocytosis) Gallstone development (for example, bilirubin stones due to spherocyte lysis)

CAUSES Hereditary Spherocytosis is a familial hemolytic disorder associated with a variety of mutations that lead to defects in red blood cell (RBC) of HS is the microspherocyte, which is caused by

PROGNOSIS

loss of RBC membrane surface area and has

Overall,

abnormal osmotic fragility in vitro.

prognosis

)

hereditary

spherocytosis

membrane proteins. The morphologic hallmark

usually

the

long-term for

good

outlook

people

with

(

with

(HS)

treatment.

However, it may depend on the severity of the condition in each person. HS is often classified as being mild, moderate or severe.

TREATMENT The

treatment

for

hereditary

spherocytosis is individualized and may require transfusions, folic acid administration, splenectomy, cholecystectomy.

full

partial and/or

MARFAN SYNDROME

A GENETIC DISORDER OF THE CONNECTIVE TISSUE. THE DEGREE TO WHICH PEOPLE ARE AFFECTED VARIES. PEOPLE WITH MARFAN TEND TO BE TALL AND THIN, WITH LONG ARMS, LEGS, FINGERS AND TOES. THEY ALSO TYPICALLY HAVE FLEXIBLE JOINTS.

Signs and Symptoms

Causes

• Tall and slender build. • Disproportionately long arms, legs and fingers. • A breastbone that protrudes outward or dips inward. • A high, arched palate and crowded teeth. • Heart murmurs. • Extreme nearsightedness. • An abnormally curved spine. • Flat feet.

Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In about 25 percent of the people who have Marfan syndrome, the abnormal gene doesn't come from either parent. In these cases, a new mutation develops spontaneously.

Prognosis

As early as the 1970s, the life expectancy of a person with Marfan syndrome was two-thirds that of a person without the disease; however, with improvements in recognition and treatment, people with Marfan syndrome now have a life expectancy similar to that of the average person.

Treatment

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing. In the past, people who had Marfan syndrome often died young. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span.

He mo ph ilia A

An inherited bleeding disorder in which the blood does not clot normally. People with hemophilia A will bleed more than normal after an injury, surgery, or dental procedure. This disorder can be severe, moderate, or mild.

CAUSES Hemophilia A is caused by a mutation in the gene for factor VIII, so there is deficiency of this clotting factor. Hemophilia B (also called Christmas disease) results from a deficiency of factor IX due to a mutation in the corresponding gene.

Prog

Hemophilia A can b severe, depending on factor VIII is in a person of people with hemop form of the disorder. treatment, people with healthy and

Signs & Symptoms Blood in the urine. Blood in the stool. Deep bruises. Large, unexplained bruises. Excessive bleeding. Bleeding gums. Frequent nosebleeds. Pain in the joints.

Treatments The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low.

S See xx nosis

e mild, moderate, or n how much clotting 's blood. About 50-60% philia A have the severe With education and h hemophilia A can live d active lives.

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Swyer Syndrome is a genetic condition that affects the sexual organ development and it is classified as a disorder of sex development (DSD). In Swyer syndrome, person with one X and Y chromosome, are usually present in males, are born with female external genitalia and underdeveloped gonads known as streak gonads. Most people who have Swyer syndrome are raised as females. Women with Swyer syndrome are infertile.

CAUSES 10 to 20% of cases are caused by genetic alterations (mutations) in the SRY gene. At least ten different other genes have been associated with Swyer syndrome. In many cases, the cause of Swyer syndrome remains unknown

Signs & Symptoms Female external genitals Delayed or absent puberty Absent of menstrual periods Undeveloped ovaries or testes 46 XY chromosomes

e m o r d n y S r e y w S

Treatments

It includes surgery to remove undeveloped gonads (streak gonads) and hormone replacement therapy during adolescence. Streak gonads

should be removed as soon as possible to avoid the risk of becoming cancerous.

Prognosis Swyer syndrome is diagnosed based on the medical history, clinical examination, presence of characteristic features, chromosome results, and imaging studies such as a MRI or CT scan. Often people with this condition are not diagnosed until adolescence or adulthood due to delayed puberty, not having menstrual cycles, or infertility. In some cases, Swyer syndrome is diagnosed at birth based on a prenatal test and ultrasound findings. Swyer syndrome occurs as the result of a new genetic change and is not inherited in families

Re tt's sy n dr om e

Rett syndrome is a rare neurodevelopmental disorder that primarily affects girls. This syndrome leads to severe impairments to a child by affecting their ability to speak, walk, eat, and even breathe. Rett syndrome mainly causes repetitive hand movements.The course and severity of Rett syndrome is determined by the location, type and severity of the mutation and X-inactivation. This syndrome is divided into four stages. Stage I: early onset. Stage II: rapid deterioration.Stage III: plateau. Stage IV: late motor deterioration.

CAUSES

Rett syndrome is a rare genetic disorder. Classic Rett syndrome, as well as several variants with milder or more-severe symptoms, can occur based on the specific genetic mutation.The genetic mutation that causes the disease occurs randomly, usually in the MECP2 gene. Only in a few cases is this genetic disorder inherited. The mutation appears to result in problems with the protein production critical for brain development. However, the exact cause is not fully understood and is still being studied.

Prog

Developmental potentia difficult to predict. Som syndrome achieve and m skills. As many as 60% of R abilities to ambulate; the r or never walk because o scoli

Signs & Symptoms Loss of speech Loss of purposeful use of hands Involuntary hand movements such as handwashing Loss of mobility or gait disturbances Slowed rate of growth for head, feet and hands Seizures or Rett “episodes” Loss of muscle tone Scoliosis Breathing issues Sleep disturbances

Treatments Although there is no cure for Rett syndrome, treatments are directed toward symptoms and providing support, which may improve the potential for movement, communication and social participation. The need for treatment and support doesn't end as children become older — it's usually necessary throughout life.

S See xx nosis

al for patients with RS is me individuals with this maintain some functional RS patients may retain their emainder lose ambulation of atrophy, dystonia, and iosis.

Treating Rett syndrome requires a team approach and the ff: Regular medical care Medications Physical therapy Occupational therapy Speech-language therapy Nutritional support Behavioral intervention Support services

llii nnk kee d d

Infertility Infertility is a global reproductive health issue that affects many individuals and couples. It is a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse Infertility can be primary or secondary.Primary infertility is when a couple has not conceived after trying for at least 12 months without using birth control. Secondary infertility is when they have previously conceived but are no longer able to.

SIGN & SYMPTOMS FemaleÂ MaleÂ Pain during sex Heavy, long, or painful periods Dark or pale menstrual blood Irregular menstrual cycle Hormone changes Obesity Infertility

TREATMENT

Changing lifestyle factors Medications Surgery (repairing varicocele) Sperm retrieval Stimulating ovulation with fertility drugs Intrauterine insemination (IUI) Surgery to restore fertility and to repairing varicocele

Hormonal imbalances Erectile dysfunction Problems with ejaculation or ejaculate Changes in testicles Obesity

PROGNOSIS The chance of a successful pregnancy depends on the cause of infertility. More than half of couples who seek infertility treatments eventually become pregnant.

CAUSES OF MALE INFERTILITY Undescended testicles Genetic defects/DNA damage Diabetes Prior bacterial or viral infections such as mumps or adenovirus Trauma or prior surgeries on the testicles or inguinal region Enlarged veins (varicoceles) in the testes that can increase blood flow and heat, both of which affect the number and shape of the sperm Exposure to chemicals like pesticides, radiation, and chemotherapy Alcohol use, marijuana use, and tobacco smoke Steroid use Overexposure to heat (such as in saunas and hot tubs) Surgical removal of one of the testicles due to cancer.

CAUSES OF FEMALE INFERTILITY Poor diet that is lacking in nutrients Athletic overtraining Stress Too much exposure to certain chemicals and toxins (for example, tobacco smoke, alcohol, marijuana, pesticides, and chemotherapy) Certain medications (the effect usually is temporary) Sickle cell disease Kidney disease Celiac disease Diabetes

Hypertension Hypertension is defined as elevated blood pressure and is the leading cause globally of death and disability. It is the major risk factor for heart attack and stroke, and it is also a significant risk factor for chronic kidney diseases and chronic heart failure. This disease is often under-diagnosed since patients with hypertension usually donâ&#x20AC;&#x2122;t have any symptoms. Diagnosis is done by blood pressure screening. Blood pressure reading is written like this: 120/80. It's read as "120 over 80." The top number is called the systolic, and the bottom number is called the diastolic. The ranges are: Normal Elevated Stage 1 Stage 2 HypertensionÂ crisis

Causes Exact cause is not known but the following plays a role: Smoking and alcohol consumption Obese and lack of exercise Genetics and Family history of high blood pressure Chronic kidney disease and Adrenal & thyroid disorders

Signs & Symptoms

Severe headache Fatigue or confusion Vision problems Chest pain Difficulty breathing Irregular heartbeat Blood in the urine Pounding in your chest, neck, or ears

Treatments

Eating a heart-healthy diet with less salt Getting regular physical activity Maintaining a healthy weight or losing weight if you're overweight or obese Limiting the amount of alcohol you drink

Prognosis

If hypertension remains uncontrolled it could lead to major risk factors such as coronary artery disease and stroke. Hypertension at the age 50 is corresponding to 5 years reduction in life expectancy.

Diabetes Diabetes is a metabolic disease that impairs the body’s ability to process blood glucose or causes high blood sugar. A patient with diabetes doesn’t make enough insulin or the insulin doesn’t do its work properly which is moving the sugar to be stored or to be used for energy. Untreated high blood sugar from diabetes can damage your nerves, eyes, kidneys and other organs.

Causes Genes and family history Age Obesity and Lack of exercise Poor diet Hormonal conditions

Signs & Symptoms

Increased thirst and hunger Weight loss Frequent urination Different kinds of diabetes can occur, and Blurry vision managing the condition depends on the Extreme fatigue type. Not all forms of diabetes stem from Sores that don’t heal a person being overweight or leading an inactive lifestyle. In fact, some are present from childhood. Insulin and non insulin medications either drugs or injections Type 1 diabetes is an autoimmune lifestyle changes disease. The immune system attacks and Well balanced diet and exercise destroys cells in the pancreas, where Limit the carbohydrates and balance insulin is made. About 10 percent of carb intake people with diabetes have this type. Type 2 diabetes occurs when your body The prognosis in people with type 2 becomes resistant to insulin, and sugar diabetes varies. It depends on how well builds up in your blood. an individual modifies his or her risk of Pre-diabetes occurs when your blood complications. Heart attack, stroke and sugar is higher than normal, but it’s not kidney disease can result in premature high enough for a diagnosis of type 2 death. Disability may also occur. Some diabetes. Gestational diabetes is high blood sugar people with type 2 diabetes become dependent on dialysis treatments or during pregnancy. Insulin-blocking require a kidney transplant because of hormones produced by the placenta kidney failure. cause this type of diabetes.

Treatments

Prognosis

CAUSES Scientists believe that for most people, Alzheimer's disease is caused by a combination of genetic, lifestyle and environmental factors that affect the brain over time. The exact causes of Alzheimer's disease aren't fully understood, but at its core are problems with brain proteins that fail to function normally, disrupt the work of brain cells (neurons) and unleash a series of toxic events. Neurons are damaged, lose connections to each other and eventually die. The damage most often starts in the region of the brain that controls memory, but the process begins years before the first symptoms. The loss of neurons spreads in a somewhat predictable pattern to other regions of the brains. By the late stage of the disease, the brain has shrunk significantly.

Alz

heimers

Alzheimers is a progressive and irreversible disorder of the brain. It causes the brain cells to degenerate and die which result in dementia or the process where the memory and thinking skills decrease slowly but severely. There is no treatment that cures Alzheimer's disease nor alters the disease process in the brain. In advanced stages of the disease, complications from severe loss of brain function — such as dehydration, malnutrition or infection — result in death.

Signs & Symptoms

Early-stage Alzheimer's (mild) Having trouble with right word and names. Socially unstable. Forgetful and losing of things Trouble with planning or organizing.

Middle-stage Alzheimer's (moderate) Forgetful of events or personal history. Moody, skeptical, and indecisive Unable to recall personal information Trouble controlling their bladder and bowels. Changes in sleep patterns Personality and behavioral changes Repetitive behavior and in trance

Late-stage Alzheimer's (severe) Require around-the-clock assistance Lose of awareness of their surroundings. Negative changes in physical abilities Have difficulty communicating. Become vulnerable to infections

Treatments While there is no cure for Alzheimer’s disease or a way to stop or slow its progression, there are drug and non-drug options that may help treat symptoms. Understanding available options can help individuals living with the disease and their caregivers to cope with symptoms and improve quality of life by creating a safe and supportive environment

Prognosis The rate of progression for Alzheimer's disease varies widely. On average, people with Alzheimer's disease live between three and 11 years after diagnosis, but some survive 20 years or more. The degree of impairment at diagnosis can affect life expectancy. Pneumonia is a common cause of death because impaired swallowing allows food or beverages to enter the lungs, where an infection can begin. Other common causes of death include dehydration, malnutrition, falls and other infections.

heart disease

r o n a r y

Coronary heart disease happens when major blood vessels or arteries are blocked by plaques (formed cholesterol). This negatively affects the process of supplying oxygen and blood to the heart. Eventually, the decrease in blood flow results in chest pain, shortness of breath and worst heart attack. Although this develops over decades, a healthy lifestyle can greatly reduce the impact.

CAUSES Coronary artery disease is thought to begin with damage or injury to the inner layer of a coronary artery, sometimes as early as childhood. The damage may be caused by various factors, including: Smoking High blood pressure High cholesterol Diabetes or insulin resistance Sedentary lifestyle High lipoprotein (a) Lack of regular exercise Thrombosis

Signs & Symptoms Angina Heart attacks Heart failure Pain in other parts of the body Sweating Shortness of breath Weakness Dizziness Nausea rapid heartbeat palpitations

Treatments

Exercise and fitness Healthy eating Stop smoking Blood-thinning medicines, Statins, andÂ Beta blockers Procedures and surgery such as Coronary angioplasty, Coronary artery bypass graft, and Heart transplant

Prognosis In general, the prognosis of coronary heart disease is related to the number of affected vessels (one-, two- or three vessel coronary artery disease) and the degree of dysfunction of the left ventricle (the heart chamber that pumps out blood to the rest of the body other than the lungs). A patient with a single affeted vessel and good left ventricular function has an excellent outlook (5-year survival >90%), whereas a patient with severe left ventricular dysfunction and extensive disease involving three vessels has a poor porgnosis (5-year survival)

Down Syndrome Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome. It is the most common genetic chromosomal disorder and cause of learning disabilities in children.

Causes Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother. Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21.

Signs & Symptoms Flattened face Small head Short neck Protruding tongue Upward slanting eye lids (palpebral fissures) Unusually shaped or small ears Broad, short hands with a single crease in the palm Relatively short fingers and small hands and feet Short height.

Treatment There is no single, standard treatment for Down syndrome. Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations.Â People with Down syndrome can receive proper care while living at home and in the community

Prognosis Many traits and conditions in people with Down syndrome are manageable with treatment and therapies. Medical care, support and education enable people with Down syndrome to live happy, active lives. Many people with Down syndrome live to age 60 or older.

Klinefelter's Syndrome Klinefelter's syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter's syndrome only affect males, and it often is not diagnosed until adulthood. Klinefelter's syndrome may adversely affect testicular growth,resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body, and facial hair, and enlarged breast tissue. The effects of Klinefelter's syndrome vary, and not everyone has the same signs and symptoms.

Prognosis Early studies of men with XXY Klinefelter syndrome produced disturbing findings of an increased risk of psychiatric disturbance, criminality, and mental retardation. These results are considered highly questionable because of selection bias from institutionalized populations.

Causes One extra copy of the X chromosome in each cell (XXY), the most common cause, An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms, More than one extra copy of the X chromosome, which is rare and results in a severe form.

Signs & Symptoms

weak muscles compared to others enlarged breast tissue low production of sperm or no sperm at all small testicle (Many boys with Klinefelter syndrome show few or only mild signs)

Treatments

If you or your son is diagnosed with Klinefelter syndrome, your health care team may include a doctor who specializes in diagnosing and treating disorders involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist.

Turners Syndrome

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects. Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood.

Signs and Symptoms

• Short stature • Webbed neck • Excess skin • Widely spaced nipples • Poor breast development • Small fingernails • Brown spots (nevi) on skin. • Constricted aorta • Elbow deformity

Causes

Most people are born with two sex chromosomes. Boys inherit the X chromosome from their mothers and the Y chromosome from their fathers. Girls inherit one X chromosome from each parent. In girls who have Turner syndrome, one copy of the X chromosome is missing, partially missing or altered.

Treatment

Because symptoms and complications vary, treatments are tailored to address your child's particular problems. Evaluation and monitoring for medical or mental health issues associated with Turner syndrome throughout life can help to address problems early. Girls could undergo Growth hormone therapy and Estrogen therapy. These therapies will help them develop their body grow and would also help them go through the puberty stage.

Prognosis

Life expectancy is slightly shorter than average but may be improved by addressing and treating associated chronic illnesses, such as obesity and hypertension. Regular checkups have shown substantial improvements in the quality and length of life for women with Turner syndrome. While almost all women are infertile, pregnancy with donor eggs and assisted reproductive technology is possible. Even with growth hormone therapy, most affected people are shorter than average.

Cri du Chat Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.

Causes Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.

Signs & Symptoms -a high-pitched, cat-like cry or weak cry -low birth weight -a small head -a rounded face -a broad, flattened bridge of the nose -eyes spaced wide apart -folds of skin over the eyelids -abnormalities of the palate, such as an unusually narrow and high palate -a receding, small chin malformations of the ears.

Treatments If you or your son is diagnosed with Klinefelter syndrome, your health care team may include a doctor who specializes in diagnosing and treating disorders involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist.

Pallister Kil

Pallister-Killian mosaic syndrome is a developmental disorder that a This condition is characterized by extremely w infancy and early childhood, intellectual disab features, sparse hair, areas of unusual skin col birth defects. Pallister-Killian mosaic syndrom distinctive facial appearance that is often des Characteristic facial features include a high, r bridge; a short nose; widely spaced eyes; lowwide mouth with a thin upper lip and a large born with an opening in the roof of the mout arched palate.

Causes Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Although Pallister-Killian mosaic syndrome is usually caused by the presence of an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases.

lian Syndrome

ffects many parts of the body. weak muscle tone (hypotonia) in bility, distinctive facial loring (pigmentation), and other meÂ is associated with a scribed as "coarse." rounded forehead; a broad nasal -set ears; rounded cheeks; and a e tongue. Some affected children are th (cleftÂ palate) or a high

Sign and Symptoms People with the same disease may not have all the symptoms listed. Distinctive facial features: Delayed teeth eruption Delayed skeletal development Downturned corners of the mouth Drooping lower lip Intellectual disabilities Developmental and speech delays Skin pigmentation differences Skeletal differences

Treatments Respiratory and breathing support Physical, occupational, and recreational therapy Assisted communication devices and sign language training Bracing, casting, or surgery to address bone issues

Prognosis Babies with PKS may be vulnerable shortly after birth since they are often born prematurely and can have central nervous system anomalies and apnea (when they stop breathing). They are also prone to respiratory difficulties and may be born with a heart defect. One of the most severe problems that some babies with PKS can suffer is a diaphragmatic hernia and some do not cope with life outside the womb or the necessary surgery. However, if these possible early problems are overcome and later medical issues such as reflux, intestinal problems and seizures are dealt with, it may be possible to manage health effectively and children with PKS could expect a long lifespan. The oldest patient described in the medical literature is 45 years old.

Angelman Syn Angelman syndrome is a genetic disorder. It causes delayed development, problems with speech and balance, intellectual disability, and sometimes, seizures. People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities. Developmental delays, which begin between about 6 and 12 months of age, are usually the first signs of Angelman syndrome. Seizures may begin between the ages of 2 and 3 years old. People with Angelman syndrome tend to live close to a normal life span, but the disorder cannot be cured. Treatment focuses on managing medical, sleep and developmental issues.

Causes In a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent. This phenomenon is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15. The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Changes involving other genes or chromosomes may be responsible for the disorder in these cases.

drome Sign and Symptoms

Treatments

Developmental delays Anti-seizure medication to control seizures Intellectual disability Physical therapy to help with walking and No speech or minimal speech movement problems Difficulty walking and moving Communication therapy, which may Frequent smiling and laughter include sign language and picture Trouble going to sleep communication Seizures Behavior therapy to help overcome Stiff or jerky movements hyperactivity and a short attention span and Small head size and flat head to aid in development Tongue thrusting Unusual behaviors, such as hand flapping Sleep problems

Prognosis Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.

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Genetic

Disorders MEDICAL MAGAZINE

GROUP 4

Cristobal Dalimbang Del Rosario Dela Cruz, G.

BIO 2 | STEM 15