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The discovery of DNA and subsequent research has opened a new door of understanding into health, helping to uncover the genetic reasons for many diseases. Moment has put together this guide to help Ashkenazi, Sephardi and Mizrahi Jews learn more about this subject which does not receive enough attention. But these diseases are not limited to Jews. Due to the whims of history, genetic mutations can be found in anyone.
Ashkenazi Genetic Diseases
Many recessive diseases caused by genetic mutations among Ashkenazi Jews from Eastern Europe are disabling and fatal. They occur when a fetus inherits two mutations in the same gene, one from each parent. Tests can determine if people carry the common mutations, and prenatal testing is possible for all the diseases included on the list below. Cystic Fibrosis and Spinal Muscular Atrophy, while slightly more prevalent among Jewish Caucasian populations than among other Caucasian populations, are not primarily considered “Jewish diseases.” If both parents are carriers of the same disease there is a one in four chance with each pregnancy of having an affected fetus. This is the autosomal recessive pattern of inheritance where both individuals must carry the same disease in order to be at risk of having an affected child.
Recent research also indicates Crohns disease, Ulcertative Colitis, and a mutation which increases the chance of developing Parkinson’s disease are all more commonly found in Ashkenazi Jews. Bloom Syndrome Bloom Syndrome hinders normal growth. Children typically reach a maximum of five feet at maturity. Other symptoms include increased respiratory and ear infections, redness of the face, infertility in males and an increased risk of cancer.
Canavan Disease
Apparently normal at birth, babies with Canavan Disease develop an enlarged head, mental retardation, feeding difficulties and seizures. Although many die in the first year of life, some live into their teens.
Familial Dysautonomia This dysfunction of the autonomic nervous system has been found only in Ashkenazi Jews. Occurring in infancy, symptoms include the inability to produce tears when crying, poor weight gain, indifference to pain, excessive sweating, gastrointestinal problems and incorrect perceptions of heat and taste. Before 1960, approximately 50 percent of patients died before age five, but today that same percentage reaches age 30.
Fanconi Anemia Type C
All five types of Fanconi Anemia, a red and white blood cell and platelet deficiency, are inherited, but Type C is the most common in Ashkenazi Jews. Although symptoms are highly variable, physical abnormalities such as limb defects, bone marrow failure, and increased cancer risks are common. Many children who are diagnosed with Type C do not survive beyond young adulthood.
Gaucher Disease, Type 1
Caused by an enzyme deficiency, the symptoms of Gaucher Disease are variable and can present any time from early childhood to adulthood. Gaucher disease type 1 causes orthopedic problems and blood abnormalities. Gaucher disease is treatable with enzyme replacement therapy.
Mucolipidosis (ML IV)
Its first symptoms are severe developmental delays and clouding of the cornea of the eye during early infancy. As it progresses, ML IV cripples the central nervous system. Most afflicted children never walk and some become severely retarded by age three.
Niemann-Pick Disease
Among its five variations, only Type A is more frequent among Ashkenazi Jews. By six months, infants with Type A experience difficulty feeding and recurrent vomiting, and develop enlarged spleens and livers. Children with Niemann-Pick disease type A usually die by age three.
Tay-Sachs Disease.
A severe neurodegenerative disease, the most common symptom is the development of a cherry-red spot on the back of the eye, which occurs when a child is four to eight months old. Most children are totally debilitated with seizures, blindness, and spasticity by age three and die by age five.
Other diseases of connection to Ashkenazi Jews are Glycogen Storage Disease type 1A, Maple Syrup Urine Disease, Familial Hyperinsulinism, Joubert Syndrome Type 2, Lipoamide Dehydrogenase Deficiency (E3), Nemaline Myopathy, Usher Syndrome Type 3, Usher Syndrom Type I, and Walker Warburg Syndrome.
NOTE: There are also diseases which are more prevalent in people with Ashkenazi Jewish heritage. They are autosomal dominant, where an individual carrying a mutation is affected, and then has a 50% chance to pass on the mutation to his/her children, including:
Torsion Dystonia Affecting movement control, Torsion Dystonia generally shows up between the ages of six and 16 and affects the muscular development of limbs. Approximately one in 3,000 Ashkenazis is likely to develop it, and symptoms sometimes develop when there is no family history.
Breast Cancer
5-10% of breast and ovarian cancers are hereditary. Of those, ~85% are due to mutations in the BRCA genes, which cause hereditary breast and ovarian cancer. 1 in 40 Ashkenazi Jews carry a mutation in the BRCA genes. There are three specific mutations (two in the BRCA1 gene and one in the BRCA2 gene) in the Ashkenazi Jewish population. If an Ashkenazi Jewish woman carries a BRCA mutation, most of the time it is one of the three founder mutations previously discussed.
Sephardi Genetic Diseases
Sephardi Jews, whose ancestry can be traced to North African and Mediterranean countries, including Spain and Greece, suffer from the same genetic diseases as other populations in these countries. Jews of Sephardi ancestry also have their own set of distinct carrier screening tests based on their country of origin.
Beta-Thalassemia
This disorder reducing the amount of hemoglobin can result in severe anemia in the first two years of life or in a milder case later in life. Roughly one in 30 people of Mediterranean descent carries the gene; one in 3,600 develops it.
Familial Mediterranean Fever
As many as one in 200 North African and Iraqi Jews, Armenians and Turks has the disease, distinguished by 12 to 72-hour bouts of fever. Symptoms usually start between ages five and 15.
Glucose-6-PhosphateDehydrogenase Deficiency (G6PD)
This common human enzyme deficiency affects an estimated 400 million people worldwide, and is transmitted from a carrier mother to her male infant. The disease can manifest itself as life-long hemolytic anemia or bouts of it. Some experience no symptoms at all, although certain oxidative drugs and infections as well as fava beans can induce it.
Glycogen Storage Disease, Type III (Cori’s Disease or Forbes Disease)
This disease prevents the liver and muscle from breaking down stored glycogen to glucose. Some develop hypoglycemia, an enlarged liver and weak muscles. Roughly one in 5,400 North African Jews has the disease.
Other diseases of connection to Sephardi origin include: Alpha-Thalassemia, Ataxia Telangiectasia, Corticosterone Methyloxidase Type II Deficiency, Costeff Optical Atrophy, Cystic Fibrosis (CF), Familial Creutzfeldt-Jakob Disease, Familial Tumoral Calcinosis (Normophosphatemic Type), Inclusion Body Myophy Type 2B, Metachromic Leukodystrophy, Polyglandular Deficiency Syndrome, Pseudocholinesterase Deficiency, Spinal Muscular Athrophy (SMA) and Wolman Disease.
MIZRAHI GENETIC DISEASES
Mizrahi, the term for “Eastern,” in Hebrew, generally refers to Jews of Persian (Iranian) and Middle Eastern heritage. Jews of Mizrahi ancestry also have their own set of carrier screening tests based on their country of origin.
BS”D
It’s a fact that Hyperhidrosis is a jewish disease… I think of the mediterranean dieta is related to all these diseases…
Would you consider that Pemphigus should be included in a list of Mediterranean Jewish diseases?
I have gauchers disease. I wish I wasn’t Jewish!
I heard that PCOS (polycystic ovarian syndrome) is significantly common in those of Jewish blood. I am of Jewish descent although distantly. I also suffer Dystonia
machado-Joseph disease is another Jewish disease. It affects the muscles. My dad passed away with it and now my brother has it and there is no help for it.
This coming September I am being tested for celiac disease when I have my colonoscopy and upper GI. My diverticulitis has been dormant 10 years My dyverticulitus Has been doin 10 years. It recently flared up where I was hospitalized 6 days released August 6, 2015. Since the hospital I didn’t eating gluten free and without sulphates and my abdomen and feeling back to normal a little bit every day which I did on my own.
I am Jewish heritage and and recently was informed to stay away from any milk and cheese products as this may contribute two other immune diseases Jewish heritage. Any suggestions would be greatly appreciated.
Thank you.
From my extensive reading on this subject, you must have a Celiac test while still consuming wheat/gluten in your diet or the test results are not valid. They are usually testing for an antibody, and you must consume gluten to create the antibody. Phone your doctor’s office about this to have your test sooner rather than later since you have adopted a gluten-free diet. Also, you may have IBS (irritable bowel syndrome) and that can present the same symptoms as Celiac, but not quite as sensitive to small wheat exposures. For that, a low FODMAP diet is indicated as a great treatment to suppress the symptoms. (There are several websites, Facebook groups, and blogs which share background and tips for this diet; and a good overview can be had at Stanford University website and Monash University (Australia) which are doing much of the research on the elimination of short-chain carbohydrates and its impact on IBS, Crohn’s, colitis, and other gastric diseases, as well as fibromyalgia, autism, and many auto-immune disorders. And, there is an app from Monash on the diet’s restrictions and allowances. It helps 75% of those presenting symptoms who follow it strictly. Wheat (fructans) are just one of the many fermentable carbs that is restricted (but not 100% as is essential for celiacs). After an elimination period of restricting all known fermentable short-chain carbs, they are carefully tested and some reintroduced — logging your consumption and reactions — to learn what works or does not for you. Reducing your inflammation is a helpful step in working toward a possible cure, but the diet itself is just a treatment to contain symptoms. Gut health is linked to physical health and some anxiety disorders and other mental health issues. Adding digestive enzymes may be worth testing as well, but learning the root cause of your symptoms is paramount to working toward a solution. Good luck. (Most Jews are lactose intolerant, as are most Asians. Switch to lactose free products to see how your respond to those. Aged cheeses have very little or no lactose — a sugar that is hard for those lacking the lactase enzyme. You can supplement the lactase enzyme for those times you cannot avoid consumption of lactose. If you still react to dairy (cramping, bloating, diarrhea then you may also have a problem with casein and must avoid all dairy products, even aged ones or those labeled “lactose free”.) You would benefit from having a nutritionist who is well versed in IBS, Crohn’s, and trained in the application of the FODMAP diet. (Fermentable olgo-, di-, and mono-saccharides, and polyols — the categories of carbs to be avoided) Look for Kate Scarlata’s blog site or website as she shares a link to dieticians and nutritionists trained in FODMAP. (And, she gives a great printout for what you can and cannot eat on the diet, broken out by category — which is most helpful for the reintroduction phase.) It can seem overwhelming, but it’s so effective for so many that it’s worth learning about and trying — but strict adherence is necessary to learn if it’s truly effective for you. And your doctor must play a role in testing for co-disorders such as SIBO (needs a breath test for hydrogen and methane and is treatable with specific antibiotics followed by probiotics) and, of course, determining why those conditions have developed. (Motility issues, and the causes of that.) It’s a lot of detective work, but sharing symptoms and test results with a group of people who have been through this is helpful in providing feedback, leads, and good suggestions — all to be taken with caution because everyone’s condition may be different enough that what works for one may not for another, or may cause harm so should be done with medical guidance. Best of luck. It may not be a “Jewish thing” but just an imbalance in your gut bacteria that could be curable, and at least may be treatable.
I, also, have dystonia, and am of distant Jewish descent. I would like to compare notes with you if you are interested.
Yes, it would be nice to compare notes with others.
I have cervical dystonia and have been told that I am distant Jewish descent.
ALL,
How do you get tested for dystonia, one being limb and the other cervical dystonia? Is it the muscles? What professional diagnosis this? How long does it take and is it difficult or easy to diagnose?
Thanks Dee