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Ashkenazi Jewish tests

All of the following are inherited in an autosomal recessive pattern, meaning a child has a 25% chance of developing the disease if both parents are carriers.

Bloom’s Syndrome

A disorder characterized by short stature, sun-sensitive skin, lesion of the nose and cheeks, increased susceptibility to infection, and increased risk of cancer.  Is also associated with diabetes, lung disease, and infertility.  Life expectancy is less than age 30.

Canavan Disease

A neurodegenerative disorder, with symptoms including delayed motor development, difficulty feeding, enlarged head circumference, poor muscle tone.  Paralysis, blindness, or hearing loss may occur.  Typically have reduced lifespan.

Dihydrolipoamide Dehydrogenase Deficiency (also called Maple Syrup Urine Disease Type III)

A metabolic disease caused by an enzyme deficiency resulting in accumulation of certain nutrients (amino acids) in the brain and other organs.  The most severe form has early onset, with poor feeding, decreased muscle tone, vomiting, lethargy, and developmental delay.

Familial Dysautonomia

A disorder of the nervous system affecting the development and survival of certain cells.  Symptoms include poor muscle tone, vomiting, recurrent pneumonia, inability to process or respond to pain, poor temperature regulation, renal dysfunction, and cardiovascular instability.  Life expectancy is reduced.

Familial Hyperinsulinism

A disorder causing over production of insulin, leading to low blood sugar (hypoglycemia).  Symptoms in infants include lethargy, irritability, poor sleeping, poor muscle tone, and feeding problems.  Repeated episodes can increase the risk of seizures, breathing problems, brain damage, and death.  Treatment can include frequent feedings and overnight feedings with a feeding tube.  Life expectancy can be normal.

Fanconi Anemia Group C

A disorder of the blood resulting in short stature, bone marrow failure, and predisposition to cancers (especially leukemia).  Symptoms may include other abnormalities of the heart, kidneys, or skeletal system.  Lifespan is typically between 20 and 30 years.

Gaucher Disease

A metabolic disorder in which lipids (fats) accumulate in the spleen, liver, lungs, bone marrow, and brain.  Symptoms include enlarged liver and spleen, anemia, bone pain, skeletal abnormalities, and lung disease.  May be treated with enzyme replacement therapy or bone marrow transplant.  Can have normal intelligence and life expectancy.

Glycogen Storage Disease Type 1A

A disorder caused by an enzyme deficiency resulting in the buildup of glycogen in the body’s cells.  Symptoms include low blood sugar, irritability, enlarged liver, seizures, and respiratory problems.  Strict diet modification can prevent complications of the disease, and allow for normal life expectancy.

Joubert Syndrome 2

A neurologic disorder caused by malformations in an area of the brain that controls balance and coordination.  Symptoms include poor muscle tone, abnormal eye movements, rapid breathing, developmental delay, and lack of muscle control.  Life expectancy depends on severity.

Maple syrup urine disease type IA/IB

A metabolic disorder in which the body cannot process certain nutrients called amino acids.  Symptoms include feeding problems, vomiting, irritability, seizures, mental retardation, coma, and death.  Many complications can be treated by a very strict diet, and those patients may have normal lifespan.

Mucolipidosis Type IV

A severe neurological disease that develops by the end of the first year of life.  Symptoms include poorly developed speech, inability to walk, and blindness.  Life expectancy is reduced.

Neimann-Pick Disease Type A/B

A group of metabolic disorders caused by the deficiency of a specific enzyme whose role is to break down lipids.  Accumulation of lipids (fats) in specific organs (liver, lungs, bone marrow, brain), can cause organ failure and death.  Type A is more severe than Type B.  Life expectancy is reduced.

Nemaline myopathy

A disorder characterized by muscle weakness, that varies in severity and age of onset.  Symptoms include feeding difficulty, respiratory distress, muscle weakness in the face and neck, and delayed motor development.  Intelligence is normal, and most have normal life expectancy.

Tay-Sachs Disease

A neurodegenerative disorder caused by a deficiency of an enzyme called hexosaminidase A.  Symptoms include rapid and progressive deterioration of the brain and nervous system, causing weakness, blindness, seizures, and unresponsiveness.  Limited life expectancy.

Usher Syndrome Type IF

A disease that causes deafness and progressive vision loss. Symptoms include delayed speech, delayed walking, difficulty with balance, progressive loss of vision beginning in adolescence.  Intelligence and life expectancy are normal.

Usher Syndrome Type III

A disease that cause progressive loss of vision and hearing.  Loss begins around the time of puberty.  Normal intelligence and life expectancy.

Walker-Warburg Syndrome

A disease characterized by brain and eye abnormalities in addition to muscle disease.  Features include malformations of the brain, excess fluid around the brain, progressive muscle weakness and atrophy, and abnormalities of the eyes.  Symptoms include seizures and intellectual disability.  Limited life expectancy.