TAY-SACHS Disease
Tay-Sachs disease is a progressive neurological condition that begins
during infancy. Deterioration of the central nervous system becomes
apparent at about 6 months of age. Symptoms include loss of coordination,
blindness, deafness, seizures and severe mental retardation. There
is no cure at the present time and average life expectancy is about
3-5 years. A variation, called "Late-Onset Tay-Sachs disease,"
affects people in childhood to adulthood and leads to a slower degeneration
in the nervous system. |
The carrier
rate in Ashkenazi Jews is about 1 in 25.
http://www.ntsad.org
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CANAVAN Disease
Canavan Disease is a progressive neurological disorder with symptoms
beginning in infancy. The condition is typically fatal within the
first decade although some people survive into their teens or early
twenties. There is no cure at the present time. Symptoms include generalized
weakness, severe mental retardation, and enlarged head size. See the
Canavan Foundation brochure for a more complete description and a
list of labs that do carrier testing. |
The carrier
rate in Ashkenazi Jews is about 1 in 40.
http://www.canavanfoundation.org
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NIEMANN-PICK Disease (Type A)
Niemann-Pick Disease refers to a group of neurodegenerative disorders.
Type A is most frequent among Ashkenazi Jews. Symptoms include enlargement
of the liver and spleen, poor growth and loss of brain function. There
is no cure at this time. Life expectancy is about 2-4 years of age.
|
The carrier
rate of Niemann-Pick Type A in Ashkenazi Jews is about 1 in 90.
http://www.nnpdf.org
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GAUCHER Disease
Gaucher Disease consists of three distinct disorders. Type 1 is most
frequent in Ashkenazi Jews. Gaucher disease is caused by an enzyme
deficiency. Symptoms include bone and joint pain, fractures and other
orthopedic problems as well as enlargement of the liver and spleen.
This condition, including the age of onset, is characterized by marked
variability. Some individuals are severely affected as teenagers,
while others remain relatively asymptomatic until age 50 or 60. Enzyme
replacement therapy for Type 1 is available and has been highly effective
in both reducing the severity of some symptoms and reversing others.
|
The carrier rate
in Askenzai Jews is about 1 in 10.
http://www.gaucherdisease.org
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CYSTIC Fibrosis
Cystic Fibrosis is a chronic illness of the respiratory and gastrointestinal
systems. Patients develop breathing difficulties, frequent infections
and poor digestion. Although there is no cure at the present time,
patients can achieve an improved quality of life with efficient supportive
treatments. Many individuals with this condition live up to 30 years
although onset and severity of symptoms as well as life expectancy
are quite variable. |
Cystic
fibrosis is found in all ethnic groups,
most commonly Caucasian, regardless of ancestry.
The carrier rate in Caucasians is about
1 in 25.
http://www.cff.org |
FANCONI Anemia (Group C)
Fanconi Anemia is a chronic blood disorder. Symptoms include bone
marrow failure, short stature and a predisposition to cancers such
as leukemia. Some children may have heart, kidney and limb abnormalities.
Diagnosis is usually made during childhood and life expectancy is
about 30 years. Bone marrow transplantation has been used experimentally
but there is no standard effective treatment at this time. |
The carrier
rate in the Ashkenazi Jewish population is about 1 in 90.
http://www.fanconi.org
|
BLOOM Syndrome
Bloom Syndrome includes poor growth in childhood, heightened sunlight
sensitivity, and a predisposition to common cancers such as breast
cancer, colon cancer and leukemia. There are immune system abnormalities
that lead to an increased risk of life-threatening infections. No
treatment is available at this time. The average life expectancy is
less than 20 years. |
The carrier
rate in Ashkenazi Jews is about 1 in 100.
jlg2003@mail.med.cornell.edu
|
FAMILIAL Dysautonomia
Familial Dysautonomia affects the "automatic" and sensory
functions of the body. Patients can have difficulties with breathing,
digestion, regulation of heart rate and blood pressure, kidney function,
temperature adjustment, growth, and bodily reactions to stress. They
have decreased sensitivity to pain. Some of the common signs include
absence of tears with crying, lack of bumps on the tongue, decreased
reflexes, and an abnormal reaction to allergy testing. Treatments
are available to address the various difficulties. |
The carrier
rate in Ashkenazi Jews is about 1 in 30.
http://www.familialdysautonomia.org
|
MUCOLIPIDOSIS IV (ML4)
Mucolipidosis IV (ML4) is a progressive neurological disorder with
symptoms beginning in infancy. Characteristics include muscle weakness,
mild to moderate mental retardation, and eye problems. The severity
of the disorder and the lifespan vary. |
The carrier
rate in Ashkenazi Jews is about 1 in 125.
http://www.ml4.org/
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* Copyright 2003: New Jersey Genetic Associates c/o St. Barnabas
Medical Center
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