Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition. Read more: Genetic Counseling Article
Related Disease Conditions
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. There are several types of anemia such as iron deficiency anemia (the most common type), sickle cell anemia, vitamin B12 anemia, pernicious anemia, and aplastic anemia. Symptoms of anemia may include fatigue, malaise, hair loss, palpitations, menstruation, and medications. Treatment for anemia includes treating the underlying cause for the condition. Iron supplements, vitamin B12 injections, and certain medications may also be necessary.
Genetic Diseases (Disorder Definition, Types, and Examples)
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
High Red Blood Cell Count (Polycythemia)
Polycythemia (elevated red blood cell count) is a rare blood disease in which the body produces too many red blood cells. Causes of polycythemia are either primary (acquired or genetic mutations) or secondary (diseases, conditions, high altitude).
Colon cancer (bowel cancer) is a malignancy that arises from the inner lining of the colon. Most, if not all, of these cancers develop from colonic polyps. Removal of these precancerous polyps can prevent colon cancer.
Fibrocystic Breast Disease
Fibrocystic breast condition (sometimes called fibrocystic breast disease) is characterized by lumpiness and usually pain, tenderness, and discomfort in one or both breasts. The condition is very common and benign (not malignant). Fibrocystic breast condition is the most common cause of "lumpy breasts" in women. A common symptom of fibrocystic breast condition is breast pain or discomfort. Some women with fibrocystic breasts have mile breast tenderness or pain. Other women with the condition may have very painful and tender breasts with lumpy areas that can be felt. Fibrocystic breast condition is most common in women after age 30, which continues through perimenopause and menopause. Women with the condition often have fewer problems after menopause (postmenopause).Fibrocystic breast condition that involves hyperplasia is associated with a slightly increased risk of developing breast cancer. Atypical hyperplasia is associated with a moderately increased risk of developing breast cancer compared to women with fibrocystic without fibrocystic changes. Natural and home remedies to help relieve breast pain include NSAIDs like aspiring, Aleve, and Advil. Prescription medication also may help relieve symptoms of fibrocystic breasts.
Nature vs. Nurture Theory (Genes vs. Environment)
In the nature vs. nurture debate, "nature" represents our genetic makeup. These are the genes you have inherited from your biological family, and that may affect your physical and mental health, for example, intelligence, disease, and psychological health. While "nurture" represents how our environment affects our intelligence, traits, personality, and mental and physical health. Studies have shown that a person's environment can alter his or her genes, and lower their risk of developing certain inherited diseases, conditions, and mental illnesses that run in his or her family. Researchers and doctors have found that particular physical traits like eye and skin color, and diseases like Huntington's chorea are the result of genetic inheritance (inherited from a family member). However, patterns of thinking and behavior can be attributed to both nature and nurture (your genes and your environment). Moreover, researchers who study the brain have found overwhelming evidence that a person's genetic factors and his or her experiences guide and support brain development. The human brain produces new nerve cells (neurons) into adulthood, and these nerve cells can change the strength of their connections throughout life, which can affect intelligence and other factors.
Pregnancy Planning (Tips)
Pregnancy planning is an important step in preparation for starting or expanding a family. Planning for a pregnancy includes taking prenatal vitamins, eating healthy for you and your baby, disease prevention (for both parents and baby) to prevent birth defects and infections, avoiding certain medications that may be harmful to your baby, how much weight gain is healthy exercise safety and pregnancy, travel during pregnancy.
Sickle Cell Disease (Anemia)
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is caused by an inherited abnormal hemoglobin. Symptoms of sickle cell anemia may include bacterial infections, painful swelling of the hands and feet, fever, leg ulcers, fatigue, anemia, eye damage, and lung and heart injury. Treatment for sickle cell anemia aims to manage and prevent the worst manifestations of the disease and focuses on therapies that block red blood cells from stacking together, which can lead to tissue and organ damage and pain.
Breast Lumps (in Women)
Breast lumps in women can have a variety of causes such as breast inflammation, infection, injuries, cancer, and non-cancerous growths. Breast lumps in women are diagnosed with physical exam, mammogram, ultrasound, MRI, and biopsy. Treatment of breast lumps in women depend on the cause.
Type 2 Diabetes
Type 2 diabetes is a chronic condition that may be reversible with diet and lifestyle changes. Symptoms include excessive thirst, frequent urination, weight loss, fatigue, and an unusual odor to your urine. Most people don't know they have type 2 diabetes until they have a routine blood test. Treatment options include medications, a type 2 diabetes diet, and other lifestyle changes.
Type 1 vs. Type 2 Diabetes: Differences
Diabetes mellitus is a metabolic condition in which a person's blood sugar (glucose) levels are too high. Over 29.1 million children and adults in the US have diabetes. Of that, 8.1 million people have diabetes and don't even know it. Type 1 diabetes (insulin-dependent, juvenile) is caused by a problem with insulin production by the pancreas. Type 2 diabetes (non-insulin dependent) is caused by: Eating a lot of foods and drinking beverages with simple carbohydrates (pizza, white breads, pastas, cereals, pastries, etc.) and simple sugars (donuts, candy, etc.) Consuming too many products with artificial sweeteners (We found out that they are bad for us!) Lack of activity Exercise Stress Genetics While the signs and symptoms of both types of diabetes are the same, which include: Increased urination Increased hunger Increased thirst Unexplained weight loss. However, the treatments are different. Type 1 diabetes is insulin dependent, which means a person with this type of diabetes requires treatment with insulin. People with type 2 diabetes require medication, lifestyle changes like eating a healthy diet, and getting regular exercise.
Hemochromatosis (Iron Overload)
Hereditary hemochromatosis (iron overload) is an inherited disorder in which there is excessive accumulation of iron in the body. Individuals may have no symptoms or signs, or they can have severe symptoms and signs of iron overload. The most effective treatment for hemochromatosis is therapeutic phlebotomy.
Cervical Cancer (Cancer of the Cervix)
Cervical cancer is cancer of the entrance to the womb (uterus) caused by the human papillomavirus (HPV). Regular pelvic exams, Pap testing and screening can detect precancerous changes in the cervix. Cervical cancer can be prevented by a vaccine. The most common signs and symptoms are an increase in vaginal discharge, painful sex, and postmenopausal bleeding. The prognosis and survival rate depends upon the stage at which the cancer was diagnosed.
Beta Thalassemia is the most familiar type of thalassemia. Thalassemia is not just one disease but rather a complex series of genetic (inherited) disorders all of which involve underproduction of hemoglobin. Beta thalassemia major symptoms include pale skin, irritability, growth retardation, swelling of the abdomen, and jaundice. Beta thalassemia treatments include directly relieving the symptoms of the illness.
Myasthenia gravis, a chronic autoimmune neuromuscular disease. Varying degrees of weakness of the voluntary muscles of the body are the main characteristics. A defect in the transmission of nerve impulses of the muscles is the cause of myasthenia gravis. Myasthenic crisis is when the muscles that control breathing weaken, which requires immediate medical attention. Symptoms include weakness of the eye muscles, facial expression, and difficulty swallowing. Treatment of myasthenia gravis includes medical therapies to control the symptoms of the disease.
Marfan syndrome is hereditary (genetic) condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics: Dislocation of one or both lenses of the eye A protruding or indented breastbone Scoliosis Flat feet Aortic dilatation Dural ectasia (a problem with the sac surrounding the spinal cord) Stretch marks Hernia Collapsed lung Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.
Huntington's disease is the result of degeneration of neurons in areas of the brain. Huntington's disease is an inherited disorder. Early symptoms include mood swings, apathy, depression, and anger uncharacteristic of the individual. Judgement, memory, and other cognitive functions may become impaired. Presymptomatic testing is available for individuals who have a family history of Huntington's disease. Treatment includes medication and therapy for symptoms.
MS (Multiple Sclerosis) vs. ALS (Amyotrophic Lateral Sclerosis) Differences and Similarities
ALS (amyotrophic lateral sclerosis, Lou Gehrig's disease) and MS (multiple sclerosis) are both diseases of the nervous system (neurodegenerative). ALS is a disease in which the nerve cells in the body are attacked by the immune system, although it's not considered an autoimmune disease by some scientists. MS is an autoimmune disease in which the insulated covering of the nerves (myelin sheath) in the CNS (central nervous system) degenerate, or deteriorate. Scientists don't know the exact cause of either problem. However, they have discovered that mutations in the gene that produces the SOD1 enzyme were associated with some cases of familial ALS. Scientists also theorize that multiple sclerosis may be caused by infection or vitamin D deficiency. ALS occurs between 50-70 years of age (the average age of occurrence ALS is 55), and mostly affects men. While MS occurs between 20-60 years of age, and mostly affects women. About 30,000 people in the US have ALS, and an average of 5,000 new diagnoses per year (that's about 15 new cases per week). Worldwide, MS affects more than 2.3 million people, with about 10,000 new cases diagnosed each year (that's about 200 new diagnoses per week).Some of the signs and symptoms of both diseases include muscle weakness, muscle spasms, problems walking, fatigue, slurred speech, and problems swallowing. ALS signs and symptoms that are different from MS include problems holding the head upright, clumsiness, muscle cramps and twitches, problems holding objects, and uncontrollable periods of laughing or crying. MS signs and symptoms that are different from ALS include vision problems, vertigo and balance problems, sexual problems, memory problems, depression, mood swings, and digestive problems. There is no cure for either disease, however the prognosis and life expectancy are different. Multiple sclerosis is not a fatal condition, while ALS progresses rapidly and leads to death.
What Foods to Avoid If You Have G6PD Deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) is a genetic (hereditary) disorder. Therefore, you cannot prevent it. However, you can prevent the more serious G6PDD symptoms by avoiding certain foods such as fava beans, aniline dyes and certain medications.
Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and skin that stretches easily. There are seven types of Ehlers-Danlos syndromes: classical type, hypermobility type, vascular type, kyphoscoliosis type, arthrochalsia type, dermatosparaxis type, and tenascin-X deficient type. Treatment for Ehlers-Danlos syndromes depends on which symptoms and signs are present.
Get the facts on Down syndrome, a genetic disorder caused by an additional set of chromosomes in a developing fetus. Down syndrome signs and symptoms include distinctive facial features, growth retardation, and decreased mental function and IQ. Blood tests and ultrasound may be used to screen for Down syndrome but chromosome analysis of the fetus is needed to diagnose the condition. People with Down syndrome age more quickly and may develop Alzheimer's disease as young as age 40. Sometimes people are diagnosed with mosaic Down syndrome, in which case they have more than one type of chromosomal makeup.
Fabry disease (Fabry's disease, alpha-galactosidase-A) is a genetic disorder with symptoms such as burning sensations in the hands, small-raised reddish-purplish blemishes on the skin, fever, decreases sweating, and gastrointestinal (GI) difficulties. Fabry disease patients are at increased risk of heart attack, heart disease, kidney failure, and stroke. Symptoms of Fabry disease can be treated with medication.
MELAS syndrome, a rare form of dementia, stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes. Mutations in the genetic material (DNA) in the mitochondria cause MELAS syndrome.
Osteogenesis Imperfecta (Brittle Bone Disease)
Osteogenesis imperfecta (OI) or brittle bone disease, is an inherited (genetic) disorder that results in abnormal bone formation, which causes the bones to break (fracture) easily. There are eight types of osteogenesis imperfecta. Osteogenesis imperfecta symptoms include skeletal deformity, frequent broken bones, and hearing problems. Tests diagnose osteogenesis imperfecta. Treatment for brittle bone disease is to manage symptoms. There is no cure for osteogenesis imperfecta.
Microcephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain. Microcephaly is caused by genetic abnormalities, abuse of alcohol or drugs, infection (for example, Zika virus, German measles, or chickenpox), exposure to toxins, or PKU while the mother is pregnant. Symptoms of microcephaly depend upon the severity of the accompanying syndrome. There is no treatment for microcephaly.
Pheochromocytoma is a tumor of the adrenal gland. Pheochromocytomas are quite rare and the vast majority of them are entirely benign. Only very rarely is a pheochromocytoma malignant. People with pheochromocytoma usually show these three symptoms headache, sweating, and heart palpitations (a fast heart beat) in association with markedly elevated blood pressure (hypertension).
Fragile X Syndrome
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms.
Lipodystrophy (Acquired, Generalized, Inherited)
Lipodystrophy is a syndrome in which fat deposits accumulate all over the body, or sometimes just portions of it, like just the upper or lower body, or places on the skin where you give yourself daily allergy or insulin shots). You can be born with the generalized congenital or inherited type, or you can acquire it from HIV treatment drugs, infections, autoimmune diseases, trauma, or from repeated injections in the same place on the skin. The symptoms, treatment, and management depend upon the patient's type of lipodystrophy.
Miscarriage is the medical term for the spontaneous loss of pregnancy from conception to 20 weeks gestation. Risk factors for a woman having a miscarriage include cigarette smoking, older maternal age, radiation exposure, previous miscarriage, maternal weight, illicit drug use, use of NSAIDs, and trauma or anatomical abnormalities to the uterus. There are five classified types of miscarriage: 1) threatened abortion; 2) incomplete abortion; 3) complete abortion; 4) missed abortion; and (5 septic abortion. While there are no specific treatments to stop a miscarriage, a woman's doctor may advise avoiding certain activities, bed rest, etc. If a woman believes she has had a miscarriage, she needs to seek prompt medical attention.
Hereditary Angioedema (HAE)
Hereditary angioedema or HAE is a genetic disease that causes swelling of the skin and tissues beneath it. Symptoms of HAE include shortness of breath, mood changes, laryngeal edema (a medical emergency), swelling of the hands and feet, muscle aches, and skin tingling. Treatment of HAE includes medication and avoidance of triggers.
Pfeiffer syndrome, a rare genetic disorder, is characterized by craniosynostosis and other birth defects. There are three subtypes of Pfeiffer syndrome. In type I Pfeiffer syndrome the individual usually has a normal lifespan and typical intelligence. Individuals with types II and II have more severe birth defects that can affect brain development and function. Signs and symptoms of Pfeiffer syndrome include a high forehead, prominent lower jaw, protrusion of the eyes, beaked nose, and short fingers and toes. There is no cure for Pfeiffer syndrome.
Face Blindness (Prosopagnosia)
Face blindness (prosopagnosia) is a condition that causes the inability to recognize faces. Face blindness may be caused by stroke, traumatic brain injury, or certain neurodegenerative diseases. Treatment involves helping the patient develop compensatory strategies.
Hyperparathyroidism is a disorder of the parathyroid glands. There are two types of hyperparathyroidism, primary and secondary. When the parathyroid glands produce too much hormone, hyperparathyroidism is the resulting condition. Most cases of hyperparathyroidism have no evident cause. Signs and symptoms of hyperparathyroidism include fatigue, weakness, depression, loss of appetite, nausea, vomiting, constipation, or confusion. Increased calcium and phosphorous excretion may cause kidney stones. The main treatment of hyperparathyroidism is surgery (parathyroidectomy).
Cerebral palsy (CP) is an abnormality of motor function and postural tone acquired at an early age (even before birth). Cerebral palsy is generally caused by brain trauma. Types of cerebral palsy include: spastic, dyskinetic (dystonic or choreoathetoid), hypotonic, and mixed types. There is no cure for cerebral palsy, and treatment is generally managing the symptoms of the condition.
Ramsay Hunt Syndrome
Ramsay Hunt syndrome is an infection of a facial nerve that causes a red painful rash with blisters and facial paralysis. Other symptoms of Ramsay Hunt syndrome may include ear pain, hearing loss, dizziness (or vertigo), dry eye, and changes in taste sensation. The herpes zoster virus causes the infection.
Loeys-Dietz syndrome is an inherited genetic syndrome characterized by aortic aneurysms in children. Children with Loeys-Dietz syndrome are at a greater risk of dying from aortic aneurysms, because the aneurysms are prone to rupture at a smaller size than other aneurysms. Physical characteristics of the syndrome include early fusion of the skull bones, widely spaced eyes, and split uvula or cleft palate. Treatment includes surgical repair fo the aneurysms.
Breast cancer is an invasive tumor that develops in the mammary gland. Breast cancer is detected via mammograms, breast self-examination (BSE), biopsy, and specialized testing on breast cancer tissue. Treatment of breast cancer may involve surgery, radiation, hormone therapy, chemotherapy, and targeted therapy. Breast cancer risk may be lowered by managing controllable risk factors.
Hyperdontia is a condition in which a person has an excessive amount of teeth (more than 20 primary teeth or 32 permanent teeth). The cause is unknown. Treatment involves tooth removal.
Gaucher disease is caused by an inherited (genetic) defect in an enzyme glucocerebroside. Signs and symptoms for Gaucher disease include anemia (low blood cell count), easy bruising, easy bleeding, bone pain, fatigue, low platelet count (thrombocytopenia), and enlarged liver and spleen. There are different types of Gaucher disease. Treatment for Gaucher disease depends on type, and symptoms of the disease.
Angelman syndrome is a genetic disorder that results from the absence of a functional copy of the UBE3A gene inherited from the mother. Infants with Angelman syndrome often have feeding problems and exhibit noticeable developmental delays by six to 12 months of age. Other symptoms include seizures, hyperactivity, speech impairment, small head size, sleep disorders, and movement and balance disorders. There is no specific treatment or therapy for Angelman syndrome.
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder caused by mutations in the SERPINA1 gene. People with the condition are at risk for developing serious lung and liver disease.
Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is a rare genetic condition that affects the development of the bones and tissues of the face. Symptoms can range from mild to severe, and include: Malformations of the eyes Anomalies of the structures of the external and middle ear Feeding or swallowing difficulties. Treatment of symptoms requires a multidisciplinary approach. Sometimes surgery may help relieve a patient's symptoms.
ALS (Amyotrophic Lateral Sclerosis) Symptoms, Causes, Life Expectancy
Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease) is a neurological disease that progresses rapidly. The disease attacks the nerve cells responsible for the control of voluntary muscles. Early symptoms include cramping, twitching, or stiffness of the muscles; slurred nasal speech; difficulty swallowing or chewing, and muscle weakness in an arm or leg. Currently, the cause of ALS is not known. ALS is a fatal disease. No cure has been found for ALS, however, the drug riluzole (Rilutek) is FDA approved, and this drug reduces the damage to motor neurons by decreasing the release of glutamate.
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.
Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is an inherited (genetic) disease that attacks motor neurons (nerve cells) in the spinal cord. As the nerve cells die, muscle cells weaken and cause signs and symptoms that affect head and neck control, walking, crawling, breathing, and swallowing. There are numerous types of spinal muscle atrophy. Treatments for spinal muscle atrophy are directed at managing symptoms of the disease. There is no cure for spinal muscle atrophy, and some types cause death.
Phenylketonuria (PKU) is a disorder that is inherited. PKU disorder increases the levels of phenylalanine in the blood. Phenylalanine is an amino acid that is obtained through diet, and is found in some artificial sweeteners. Signs and symptoms of PKU may vary from mild to severe, and may include: Behavioral problems Developmental delays Autism Seizures PKU has an autosomal recessive pattern of inheritance.
Campomelic dysplasia is a rare inherited condition that may be life threatening. The condition affects the skeleton and reproductive system.
Hunter Syndrome (Mucopolysaccharidosis II, MPS II)
Hunter syndrome (mucopolysaccharidosis II, MPS II) is an inherited or genetic disease. Signs and symptoms of Hunter syndrome include diarrhea, voice changes, facial changes, and distended abdomen. Treatment for Hunter syndrome is geared toward symptoms of the disease with idursulfase or Elaprase (enzyme replacement therapy).
Osteoarthritis vs. Osteoporosis Differences and Similarities
Arthritis is defined as painful inflammation and joint stiffness. Osteoarthritis is a type of arthritis and the most common cause of chronic joint pain, affecting over 25 million Americans. Osteoarthritis is a type of arthritis that involves the entire joint. Osteoporosis is not a type of arthritis. It is a disease that mainly is caused by a loss of bone tissue that is not limited to the joint areas. It is possible for one person to have both osteoarthritis and osteoporosis. The differences in the signs and symptoms of osteoarthritis and osteoporosis include; pain, stiffness, and joint swelling, joint deformity, crackle sounds when the joint is moving, and walking with a limp. Osteoporosis is called the "silent disease" because it can progress for years without signs and symptoms before it is diagnosed, severe back pain, bone fractures, height loss, and difficulty or inability to walk. The differences in the causes of osteoarthritis and osteoporosis are that osteoarthritis usually is caused by wear and tear on the joints. Osteoporosis usually is caused by one or more underlying problems, for example, calcium and vitamin D deficiencies. Treatment for osteoarthritis and osteoporosis are not the same. There is no cure for osteoarthritis or osteoporosis.
Porphyria is a group of disorders that affect the nervous system, skin, or both. Porphyria is often an inherited condition that causes blistering, itching, and swelling of the skin. Treatment of porphyria may include avoiding triggers, receiving heme, taking medication, or having blood drawn to reduce iron levels in the body.
Williams syndrome is a developmental disorder that affects many parts of the body. Signs, symptoms, characteristics and features may include intellectual disability, learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel problems. Williams syndrome is a genetic condition that involves chromosome 7.
What Is the Life Expectancy of Someone With Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency (A1AD or AATD) is an inherited genetic disorder that occurs due to the mutation of the gene, Serpina1. This results in insufficient levels of alpha-1 antitrypsin (A1AT or AA), which is a protein that protects the lungs. With appropriate treatment, most patients would be able to live a good life with normal life expectancy, work, play sports and exercise.
Pycnodysostosis (pyknodysostosis) is an inherited disease of the bone. Characteristics of individuals with pycnodysostosis are: short stature, brittle bones, short fingers, the midface is less full than usual, a prominent nose, small jaw, and more. There is no cure for pycnodysostosis.
Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders. Charcot-Marie-Tooth disease affects the peripheral nerves. CMT symptoms and signs include weakness of the lower leg muscles and foot, foot drop, foot deformities, etc. There are several forms of Charcot-Marie-Tooth disease. Inherited gene mutations are the cause of Charcot-Marie-Tooth disease. There is no cure for Charcot-Marie-Tooth disease, however, therapeutic measures and mild exercise may help symptoms.
There are three types of Usher (Usher's) syndrome, the most common condition that affects both vision and hearing. The major symptoms of Usher syndrome include retinitis pigmentosa (night-blindness and a loss of peripheral vision), and hearing loss. Usher syndrome is a genetic condition. There is no cure for Usher syndrome.
Hirschsprung Disease (Symptoms, Causes, and Treatments)
Hirschsprung disease is an inherited condition that is present at birth (congenital) in which the nerves of parts of the large intestine are missing. The primary symptom is constipation. The diagnosis of Hirschsprung disease is made by examining the newborn or child, genetic testing, and other test results. Treatment for Hirschsprung disease is surgery, either pull-through procedure for newborns or ostomy for children. Most newborns and toddlers feel much better after surgery.Other information about Hirschsprung disease.Hirschsprung disease is a genetic, or inherited, condition. Other symptoms in newborns and toddlers are: Diarrhea, often with blood. Green or brown vomit Abdominal distension Nausea and vomiting Weight loss Sepsis Failure to thrive in infancy Intestinal obstruction Slow growth Intellectual disability The only treatment for Hirschsprung disease is surgery. Doctors and surgeons treat newborns with a pull-through procedure in which the surgeon removes the part of the large intestine that is missing nerves and connects it to the healthy part of the anus. Toddlers and children require ostomy surgery, in which part of the intestine is brought through the abdominal wall so that feces can leave the body without passing through the anus. The opening in the abdominal wall is called a stoma, and a removable external pouch is attached to it. Complications can occur with either type of surgery, and may include: Narrowing of the anus Enterocolitis Delayed toilet training Stool leaking from the anus Hirschsprung disease can be a medical emergency that requires surgery. If your newborn or child has these symptoms listed, contact your OB/GYN or Pediatrician urgently. REFERENCES: NIH; National Institute of Diabetes and Digestive Diseases. "Hirschsprung Disease." Updated: Sep 2015.<https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease> Genetic Home Reference. "Hirschsprung disease." Updated: Jun 27, 2017.<https://ghr.nlm.nih.gov/condition/hirschsprung-disease#synonyms> NCBI. "Hirschsprung Disease Overview." Updated: Oct 1, 2015.<https://www.ncbi.nlm.nih.gov/books/NBK1439/> NIH; National Center for Advancing Translational Sciences; GARD. "Hirschsprung's disease." Updated: Jun 01, 2017.<https://rarediseases.info.nih.gov/diseases/6660/hirschsprungs-disease>
Gilbert syndrome is a benign genetic condition that causes abnormal breakdown of bilirubin, a compound that is formed when hemoglobin from red blood cells degrades. Elevated bilirubin can cause, jaundice, which is yellowing of the eyes. Gilbert syndrome does not need to be treated and has a good prognosis.
Gardner's Syndrome (Familial Adenomatous Polyposis)
Gardners' syndrome, or familial adenomatous polyposis (FAP), is an inherited condition in which cancer of the colon and rectum develop. Colon polyps and growths may develop as early as the teens. If these polyps are not removed, they will become cancerous. There are different inheritance patterns for familial adenomatous polyposis.
Kidney Dysplasia: In Infants and Children
Kidney dysplasia is a condition in which one or both of a baby's kidneys do not develop normally. In kidney dysplasia, cysts replace normal kidney tissue. Signs of kidney dysplasia include enlarged kidneys and, rarely, high blood pressure. A child with kidney dysplasia may not have any symptoms. Genes and maternal exposure to certain drugs may cause kidney dysplasia. Regular checkups should include blood pressure measurements, kidney function tests, and urine testing for protein.
What Is the Life Expectancy of Someone With Noonan Syndrome?
There is a wide range in the severity of signs and symptoms in people with Noonan syndrome (NS). Therefore, the prognosis (long-term outlook) of this disease may vary in every case. The life expectancy of a person with NS is likely to be normal if serious heart defects are absent.
Frontotemporal Dementia (Pick's Disease and Semantic Dementia)
Frontotemporal dementia (FTD) is a syndrome that is associated with shrinking of the frontal and temporal lobes of the brain. Frontotemporal dementia used to be referred to as Pick's disease. Frontotemporal dementia has a strong genetic component. Symptoms of frontotemporal dementia include changes in behavior or problems with language. There is no treatment that slows the progression of frontotemporal dementia. Medication may be prescribed to improve symptoms. The outcome for patient's with frontotemporal dementia is poor.
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in chestbone, webbing of the neck as well as heart and blood vessel defects. Named after Dr. Jacqueline A. Noonan it is inherited as an autosomal dominant disorder. The Noonan gene (NS1) is on a nonsex (autosomal) chromosome (number 12) and is transmitted from a parent with a 50% probability to boy or girl. Treatment for Noonan syndrome is directed toward the problems that may occur in a given affected individual. The heart defects may require surgical treatment. The expected outcome (prognosis) depends on the extent and severity of the features that are present.
Auditory Processing Disorder in Children
Children with auditory processing disorders often do not recognize subtle differences between sounds in words, even though the sounds themselves are loud and clear. Symptoms of auditory processing disorder include low academic performance, behavior problems, difficulty with language and reading, and trouble paying attention. Treatment may involve auditory trainers, environmental modifications, auditory memory enhancement, and auditory integration training.
What Is Down Syndrome?
Down syndrome is a type of genetic disorder in which a person has an extra chromosome (rod-like structures that contain genes) inside the cells. In the case of a baby with Down syndrome, there is an extra copy of one of these chromosomes, that is, chromosome 21.
Wolff-Parkinson-White syndrome is a condition in which abnormal electrical pathways in the heart cause arrhythmias. Symptoms of Wolff-Parkinson-White syndrome include: tachycardia, dizziness, palpitations, fainting, and shortness of breath. Wolff-Parkinson-White syndrome is a common cause of paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is caused by mutations in the PRKAG2 gene.
Periodic Paralysis Syndrome (Types, Symptoms, Diagnosis, and Diet)
Periodic paralysis syndrome comprises several types of rare muscle diseases in which a person experiences temporary muscle paralysis of one area of the body, or the entire body for a few minutes or days. The person regains normal muscle strength between periods of muscle weakness. You inherit the syndrome from your biological mother or father, or from a mutation in your genes. This gene mutation determines the type of periodic paralysis you have. The other symptoms depend upon the type of periodic paralysis you have. For example: Hyperkalemic periodic paralysis is usually seen in children under the age of 10. An early symptom may be a lagging eyelid. Normokalemic periodic paralysis causes weakness. Hypokalemia periodic paralysis 1 or hypoPP1L usually begins in childhood with symptoms of episodic muscle weakness in addition to irregular heartbeats. The symptoms may last through age 20-40. Hypokalemia periodic paralysis 2 or hypoPP2 has the same signs and symptoms as hypoPP1. Thyrotoxic periodic paralysis or TPP causes symptoms of weakness that involves the muscles that help you breathe. Paramyotonia Congenita or PCM produces symptoms like a weakness response to cold or increased activity and muscle weakness and rigidity. Potassium aggravated myotonias, when triggered by exercise can an attack of muscle stiffness. Andersen-Tawil syndrome or ATS cause symptoms of irregular heart rhythms. Familial periodic paralysis is a term used by doctors to describe four of the periodic paralysis syndromes. Treatment of periodic paralysis syndrome depends upon the kind of syndrome you have. Your doctor may make changes to your diet and prescribe prescription medication. REFERENCE: Stripathi, N., MD. "Periodic paralyses." Medscape. Updated: May 18, 2017.< http://emedicine.medscape.com/article/1171678-overview>
Niemann-Pick disease is genetic (inherited) disease referred to as lipid storage disease. Niemann-Pick disease is divided into four main types: A, B, C1, and C2. Niemann-Pick disease symptoms and signs include neurological conditions, ataxia, spasticity, increased sensitivity to being touched, and slurred speech. No treatments or cure for Niemann-Pick disease exist, so the prognosis and life expectancy depend on the type, causes, genetic inheritance, and age.
Prader-Willi syndrome is a condition characterized by severe floppiness (hypotonia), poor growth, delayed development, and poor feeding problems in early infancy later followed in infancy by excessive eating that may lead to extreme obesity. The genitals in both females and males are underdeveloped and most are infertile. Prader-Willi syndrome is related to chromosome 15.
Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the code for the alpha chains of hemoglobin. When one gene is impaired, that person is in a carrier state and suffers no medical problems. When four genes are impaired, the production of fetal and adult hemoglobin is prevented, resulting in hydrops fetalis and leading to death before birth.
Friedreich's Ataxia Syndrome
Friedreich's ataxia syndrome is a rare inherited (genetic) disease that causes progressive nervous system damage and movement problems. Friedreich's ataxia syndrome usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. Symptoms of Friedreich's ataxia syndrome include poor balance, slurred and jerky speech, and difficulty with coordination. Genetic testing and other procedures are used to confirm the diagnosis of Friedreich's ataxia syndrome. There is no effective treatment or cure for Friedreich's ataxia syndrome, however; the symptoms of Friedreich's ataxia syndrome can be treated.
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome is an inherited genetic condition. This syndrome is characterized by a dramatic, rapid appearance of aging beginning in childhood. Children with Hutchinson-Gilford progeria syndrome look normal at birth and infancy. Signs and symptoms of Hutchinson-Gilford progeria syndrome include prominent eyes, protruding ears, thin nose with a beaked tip, thin lips, and a small chin. This syndrome may cause hair loss, aged-looking skin, joint abnormalities, and loss of fat under the skin. Hutchinson-Gilford progeria syndrome is caused by the mutation of the LMNA gene.
Colon Cancer Prevention
Colorectal cancer is both curable and preventable if it is detected early and completely removed before the cancerous cells metastasize to other parts of the body. Colonoscopy and flexible sigmoidoscopy (along with digital rectal examination and stool occult blood testing) are both effective at preventing colo-rectal cancers and detecting early colo-rectal cancers.
Epidermolysis Bullosa (EB)
Epidermolysis bullosa (EB) is a group of inherited diseases characterized by skin blistering, erosion, and fragility. EB affects eight of 1 million Americans. There is no cure for EB, and the only treatment is supportive care.
Malignant hyperthermia is a severe reaction to certain drugs that are often used during invasive procedures or surgery. Certain mutations in genes increase the risk of a person having malignant hyperthermia. Without prompt treatment, the complications of malignant hyperthermia can be life-threatening.
Canavan disease is an inherited genetic disorder that typically causes death before 10 years of age. Signs and symptoms of the disease include developmental delays, loss of muscle tone, enlargement of the head, and severe feeding problems. The disease is most prevalent in the Ashkenazi Jewish population. There is no treatment for the disease.
Rothmund-Thomson syndrome is a rare genetic. The signs and symptoms of Rothmund-Thomson syndrome include a redness on the cheeks (developed between the ages of 3 and 6 months); poikiloderma; sparse hair, eyebrows, and eyelashes; slow growth, teeth and nail abnormalities, infancy gastrointestinal problems, cataracts, skeletal abnormalities, bone and skin cancer. Mutations of the RECQL4 gene causes about two-thirds of the cases of Rothmund-Thomson syndrome. This syndrome is an inherited autosomal recessive pattern genetic mutation. Other names for Rothmund-Thomson syndrome include: congenital poikiloderma, poikiloderma atrophicans and cataract, poikiloderma congenitale, poikiloderma congenitale of Rothmund-Thomson, and RTS.
What Causes Down Syndrome?
Down syndrome is a genetic disorder caused by abnormal cell division resulting in chromosomal abnormality. Abnormalities include an extra full or partial copy of chromosome 21. This genetic abnormality leads to developmental and physical changes that are characteristic of Down syndrome.
How Is a Person's Life Affected By Cystic Fibrosis?
How long can you live with cystic fibrosis? Learn the signs of cystic fibrosis and what to do if someone you know has cystic fibrosis.
What Causes Fragile X Syndrome?
Fragile X syndrome (FXS) is a genetic disorder. It is passed down from parents to their children. A genetic disorder means the genes of either parent are faulty. Kids with FXS exhibit developmental delays, delayed milestones, poor intellect and mental retardation.
How Many Types of Muscular Dystrophy Are There?
Muscular dystrophy is a genetic disease that weakens and wastes away skeletal muscle. There are 30 different types of muscular dystrophy that fall into nine major categories. Learn what the symptoms of muscular dystrophy are, how you get muscular dystrophy, and what treatments there are for muscular dystrophy.
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