Browse the Web sites on Jewish genetic diseases, and most will include breast cancer, cystic fibrosis and colitis along with the more common genetic maladies impacting the Jewish community — all illnesses that affect thousands of non-Jews as well.
The following is a listing of lesser-known Jewish genetic diseases. Their incidence is rare, but when they strike, they can be devastating:
Bloom’s syndrome — Individuals with Bloom’s syndrome have an unusually high number of breaks along their chromosomes. Symptoms may include short stature, a narrow face with prominent nose, skin color changes in the face, butterfly-shaped facial rash, high-pitched voice, increased susceptibility to infections, respiratory illness, cancer and leukemia.
Canavan disease — This inherited disease is due to a lack of substance in the body called aspartoacylase (ASPA). Characteristics include brain damage, mental retardation, large head size, tremors and inability to move muscles.
Crohn’s disease — Crohn’s is a serious inflammatory disease of the gastrointestinal tract. It predominates in the intestine (ileum) and the large intestine (colon), but may occur in any section of the gastrointestinal tract. There is no cure.
Fabry disease — This disease is caused by a deficiency of the enzyme a-galactosidase, which causes abnormal deposits of a fatty substance called globotriaosylcera-mide in blood vessels throughout the body. Particularly affected are the skin, kidneys, heart, brain and nervous system. There is an increased risk of kidney and heart disease as well as a reduced life expectancy.
Familial dysautonomia — This illness results from the abnormal development of the nervous system, particularly the sensory and autonomic systems. The autonomic nervous system controls such involuntary functions as swallowing, digestion, temperature and blood pressure regulation. Familial dysautonomia is a fatal disease, with approximately 50 percent of individuals reaching the age of 30. Individuals affected can be expected to function independently if treatment is begun early.
Familial Mediterranean fever — This is an inherited rheumatic disease. Symptoms include recurring bouts of fever, severe abdominal pain caused by inflammation of the abdominal cavity, chest pain from inflammation of the lung cavity and skin rashes. Some affected individuals develop amyloidosis, a potentially deadly buildup of protein in vital organs.
Fanconi anemia — Fanconi anemia is an inherited condition characterized by reduced production of all types of blood cells in the body. Characteristics include discoloration of the skin, short stature, skeletal problems, learning disabilities and increased incidence of cancer. Patients rarely live beyond their teens or early 20s.
Gaucher disease — An enzyme deficiency disorder that can occur at any age, Gaucher disease is most dangerous and most severe in infants. It results from the deposit of glucocerebroside in the liver, bone marrow and spleen. Some individuals are mildly affected and have few health problems; others show more significant problems, either at an early age or later in life. Symptoms include anemia, fatigue, easy bruising, enlarged spleen and liver, bone pain, osteoporosis and spontaneous fractures. Persons with Gaucher’s have an increased cancer risk.
Machado Joseph disease — This is a fatal genetic disorder of the nervous system that cripples and paralyzes while leaving the intellect intact. The disease is characterized by weakness in the arms and legs and a general loss of motor control, eventually resulting in inability to walk. The disease progresses relentlessly and death occurs from six to 29 years after onset.
Mucolipidosis Type IV (ML4) — This disease is characterized by severe neurological and ophthalmologic abnormalities. ML4 usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones. Children with ML4 typically reach a maximum developmental age of 15 months in language and motor function, although their receptive abilities are more advanced. They also experience retinal degeneration that severely limits their vision. There is currently no treatment.
Niemann-Pick disease — A severe neurological disease, Niemann-Pick Type A generally leads to death between 2 and 3 years of age. Type B patients have little or no neurological involvement and many survive into late childhood or adulthood. Symptoms of Type A include abdominal distention, coordination and motor-skill difficulties, feeding problems, blindness, enlarged liver, and/or spleen. Type B is less extreme and does not affect the brain. However, it does cause liver, spleen, lymph node and bone marrow problems, and it generally leads to abdominal distention and respiratory difficulties.
Tay-Sachs disease — Tay-Sachs, the best-known Jewish genetic disease, is a fatal inherited metabolic disorder. It is characterized by the onset of severe mental and developmental retardation during the first four to eight months of life. The first signs of Tay-Sachs disease vary and are evident at different ages in affected children. Initially development slows and there is loss of peripheral vision caused by an abnormality in the retina. By age 2, most Tay-Sachs babies experience recurrent seizures and diminished mental status. Death occurs by age 5 to 8. There is an adult-onset form as well.
For more information on Jewish genetic diseases, numerous organizations are listed on the Web. Among the most comprehensive: mazornet.com, the Center for Jewish Genetic Diseases at Mount Sinai School of Medicine at www.mssm.edu/jewish_genetics and the Chicago Center of Jewish Genetic Diseases at www.jewishgeneticscenter.org.
Locally, the Bay Area is home to the UCSF-Stanford Lysosomal Disease Center, which provides complete services including consultation, examination, testing, diagnosis, treatment and genetic counseling for patients and their families. Information: (800) 901-9997, (415) 476-5048 or http://medschool.ucsf.edu/lysosomal.
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