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. Genetic Testing . French Canadian Panel . Cystic Fibrosis > Ashkenazi Jewish Panel . Genetic Counseling . Consents / Request Forms |
Ashkenazi Jewish Panel
To detect and prevent
Description of the diseases Gaucher disease Gaucher disease is caused by the accumulation of a specific fat substance in body cells. It can be divided into five different subtypes. Type 1, which is the most frequent form that can be present at any age and is characterized by enlarged liver, anemia, bone and lung disease. No neurological symptoms are associated with this type. Types 2 and 3 occur in infants and children and are characterized by neurologic symptoms (limited physical and mental development). Type 4, a perinatal-lethal form of Gaucher disease present at birth, has severe symptoms and death occurs rapidly. Finally, Type 5 is mainly caracterized by cardiovascular symptoms and eye disorders. Some individuals known to carry the genetic traits of the disease exhibit only a mild form or no distinguishable symptoms. Tay-Sachs disease The most frequent and classical type of Tay-Sachs disease is a neurodegenerative disorder with onset in the first six months of life. It is characterized by progressive weakness, loss of motor skills, onset of seizures, blindness, usually culminating in total incapacitation and finally, death at approximately four years of age. Juvenile and adult forms of the disease are less acute and show slower progression. Canavan disease Canavan disease is caused by the accumulation of a specific acidic product in the brain, resulting in degeneration of the neurons. It is suspected in infants who present macrocephaly (large head), muscle weakness and lack of head control at three to five months of life. The infant will not learn to sit, stand or walk independently, nor she or he will be able to speak. Muscle weakness usually gives way to muscle spasms. In general, the child will survive up into his or her teen years. Familial dysautonomia With familial dysautonomia, the development and survival of brain neurons are impaired from birth throughout life. Thus, the infant shows muscle weakness and some delays in physical development. Affected individuals have gastrointestinal problems (nausea, vomiting, reflux), recurrent pneumonia, cardiovascular symptoms (hypertension, tachycardia), reduced sensitivity to pain and temperature and may show irritability and insomnia. Adults often have difficulty walking. About 50% of patients survive up to 30 years of age. Fanconi anemia Fanconi anemia is characterized by physical malformations, bone marrow failure and increased risk of leukemia and solid tumors. It is usually diagnosed during childhood. Physical malformations may include short stature, skeletal abnormalities and internal organ malformations (heart, kidneys, digestive tract, etc.). The central nervous system may also be affected causing hearing loss and developmental delay. Progressive bone marrow failure presents during the first ten years of life, causing a reduced production of blood cells and increasing the risk of leukemia and anemia. Individuals are also at higher risk to develop solid tumors, particularly of the head, neck, skin, digestive and reproductive systems. Niemann-Pick disease (type A) Niemann-Pick disease is caused by the accumulation of a specific type of fat in various body organs, particularly in the liver, the lungs and the central nervous system. Symptoms begin within the first few months of life. The liver becomes enlarged and neurological symptoms present as difficulty in feeding and swallowing, developmental delays, seizures and ocular problems. Deterioration occurs rapidly and most patients die by the age of two to three years. Mucolipidosis (type IV) Mucolipidosis is caused by the accumulation of fats and other products, particularly in the brain. It presents in the first year of life as severe physical and mental developmental delay. Progressive degeneration of the retina and clouding of the cornea occurs during childhood, resulting in severe visual impairment by the age of ten years. Most individuals do not speak or walk independently. Neurological degeneration is observed in about fifteen percent of affected individuals. Bloom syndrome Bloom syndrome is characterized by growth delay, skin abnormalities, immunodeficiency and increased susceptibility to cancer. Growth delay is observable in the first year of life, resulting in short stature. Skin abnormalities present as plaques or macules on the face and areas exposed to light. Patients with Bloom syndrome have an increased risk of developing leukemia, lymphoma and tumors of the digestive system. They also suffer from recurrent respiratory and gastrointestinal tract infections due to immune deficiencies. Cystic Fibrosis Cystic Fibrosis is a chronic disease that primarily affects the respiratory, digestive and reproductive systems. For more information, visit our web site under cystic Fibrosis.
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