--I am from Greece and I am a secont generation patient of Madelung syndrome.
--My English is not so good, but i hope what i write to be understood.
--These are not science data, and i don't mention names of doctors or hospitals.
--I am not a doctor, just the intermediate between my family and the doctors who handle with the case.
--I made this blog-site to share my experiences with other people and the purpose of this site is to learn other patients or doctors from me and learning from you.
--I heard this name at 1994 from my surgeon when i started the surgeries. I have had 12 surgeries until now (2009). Some of them traumatic with cut of the rim nerve, resection of the underjow salivary gland, resection of piece of parotid glands etc.
--The name of the diseace or syndrome is: Madelung syndrome, from the German doctor who first described it, or Madelung's diseace, or Launois- Bensaude Syndrome, or Benign Symmetric Lipomatosis in Greek (Συγγενής συμμετρική τραχηλική λιπωμάτωση), all names is the same thing. There is also mathematic constands with this name and an orthopedic deformity.
--Characteristics of this syndrome is some body shape, with thin legs and most uper body and growth of fatty masses around the neck, head and back of the body also concetration of fat in the chest in men (some type of gynecomastia. The fatty masses appears between the ages of 30 (in me) and 40 or 50 to other members of my family.
--A doctor said to me that the syndrome appears usually in men, around the Mediterranean Sea, some cases has mentioned in China, and is due to wine drinking, but no one of my family is drinking alcohol and women first appear with it.
--My family are 4 persons of first generation that all suffer from Madelung syndrome, and now are dead, but i keep photos of them, and 5 person of the secont generation (physical children of the first generation - incuding myself) of whom 4 have present the syndrome and 1 not yet.
--This fat around the neck is not normal fat, is brown hormonal fat, one doctor said to me: that kind of fat has the newborns children around the neck who dissolve with growth.
--My surgeon dissociates lipoma and lipomatosis. Lipoma is normal fat calls usually inside a capsule (pouch) and it is easy to remove. Lipomatosis is fat cells that involves with other tissues like muscles, glands, nerves or trifacials and is refractory to remove, difficult to remove that fat. It is hard fat and liposuction vacum machine's do a little, except the danger to make a damage to some nerve. Between three first surgeries that were done in the face (neck and parotid glands), the lipomatosis grew up again within a year.
--My surgeon trying to help me with my stress, (if this syndrome genetically transfer to my children, or why this fat recur (growth again) and why other people of my family have the same syndrome including myopathy), send me to another hospital to a doctor that is specialty is the diabetes and hormons. In a international medical conference, mentioned the Madelung syndrome and a doctor that lives and works in other country that Greece, asked most members of my family to give and to transfer to him, samples of blood, muscle, fat (normal fat and "Madelung fat", samples of skin and exams of diabetes in blood, for more tests and DNA test.
--The DNA tests have shown a mutation in mitochondrial DNA, in A8344G gene, that instead of adenine for base has guanine.
--This mutation called syndrome MERRF but the characteristics are epilepsy and myopathy.
--Mitochondrial DNA is transfered to children only from mothers, and that because the moment of conception the sperm drop the tail that contains the mitochondria. Mitochondria are responsible for the metabolism of the organism, and for the energy distribution, something like the combustor of the organism.
--Not all the cells of body have the mutation, the percentage in% of mitohondria inside a cell that have the mutation called Heteroplasmy. The Heteroplasmy varies to different tissues of body and to members of the family.
--Madelung syndrome must differ from MERRF syndrome. No one of my family has epilepsy but myopathy has almost all including the concentration of fatty masses around the neck and back of the body.
--Five persons of my family (4 of first generation and 1 of second generation have died; they suffered from myopathy in legs and hands and other parts of the body.
--In other members of my family first appeared the fatty masses around the neck and then after years the myopathy, to other members first the myopathy and then the fatty masses, all between ages 30 and 50.
--I persistently believe that the heart, like a muscle suffers from the Madelung syndrome and leads to death. All my relatives died from heart diseaces, most of them of pulmonary edema, and that because heart cannot pump the blood.
--Doctors says that heart has it's own rules, and it is other kind of muscle. I don't believe them. the facts speak for themselves.
--No one can tell from what started the mutation and what is that thing that trigger the gene and makes it to show the effects of the syndrome (myopathy and neck fat)
--A doctor recomended to me, to take the coenzume Q10 like a prevention. It is not a cure but it will help to the oxygenation of the mitochondria of the muscles cells that suffer from the diseace, and helps the myopathy of the diseace to appear more smooth.
--In some members of my family the myopathy rose sharply in one year, the results was to lead them in wheelchair and with no ability to do a thing, even to continue to do surgeries, because it is not allowed to do general anesthesia when you have myopathy .
13/07/2009
This page in Greek
--My English is not so good, but i hope what i write to be understood.
--These are not science data, and i don't mention names of doctors or hospitals.
--I am not a doctor, just the intermediate between my family and the doctors who handle with the case.
--I made this blog-site to share my experiences with other people and the purpose of this site is to learn other patients or doctors from me and learning from you.
--I heard this name at 1994 from my surgeon when i started the surgeries. I have had 12 surgeries until now (2009). Some of them traumatic with cut of the rim nerve, resection of the underjow salivary gland, resection of piece of parotid glands etc.
--The name of the diseace or syndrome is: Madelung syndrome, from the German doctor who first described it, or Madelung's diseace, or Launois- Bensaude Syndrome, or Benign Symmetric Lipomatosis in Greek (Συγγενής συμμετρική τραχηλική λιπωμάτωση), all names is the same thing. There is also mathematic constands with this name and an orthopedic deformity.
--Characteristics of this syndrome is some body shape, with thin legs and most uper body and growth of fatty masses around the neck, head and back of the body also concetration of fat in the chest in men (some type of gynecomastia. The fatty masses appears between the ages of 30 (in me) and 40 or 50 to other members of my family.
--A doctor said to me that the syndrome appears usually in men, around the Mediterranean Sea, some cases has mentioned in China, and is due to wine drinking, but no one of my family is drinking alcohol and women first appear with it.
--My family are 4 persons of first generation that all suffer from Madelung syndrome, and now are dead, but i keep photos of them, and 5 person of the secont generation (physical children of the first generation - incuding myself) of whom 4 have present the syndrome and 1 not yet.
--This fat around the neck is not normal fat, is brown hormonal fat, one doctor said to me: that kind of fat has the newborns children around the neck who dissolve with growth.
--My surgeon dissociates lipoma and lipomatosis. Lipoma is normal fat calls usually inside a capsule (pouch) and it is easy to remove. Lipomatosis is fat cells that involves with other tissues like muscles, glands, nerves or trifacials and is refractory to remove, difficult to remove that fat. It is hard fat and liposuction vacum machine's do a little, except the danger to make a damage to some nerve. Between three first surgeries that were done in the face (neck and parotid glands), the lipomatosis grew up again within a year.
--My surgeon trying to help me with my stress, (if this syndrome genetically transfer to my children, or why this fat recur (growth again) and why other people of my family have the same syndrome including myopathy), send me to another hospital to a doctor that is specialty is the diabetes and hormons. In a international medical conference, mentioned the Madelung syndrome and a doctor that lives and works in other country that Greece, asked most members of my family to give and to transfer to him, samples of blood, muscle, fat (normal fat and "Madelung fat", samples of skin and exams of diabetes in blood, for more tests and DNA test.
--The DNA tests have shown a mutation in mitochondrial DNA, in A8344G gene, that instead of adenine for base has guanine.
--This mutation called syndrome MERRF but the characteristics are epilepsy and myopathy.
--Mitochondrial DNA is transfered to children only from mothers, and that because the moment of conception the sperm drop the tail that contains the mitochondria. Mitochondria are responsible for the metabolism of the organism, and for the energy distribution, something like the combustor of the organism.
--Not all the cells of body have the mutation, the percentage in% of mitohondria inside a cell that have the mutation called Heteroplasmy. The Heteroplasmy varies to different tissues of body and to members of the family.
--Madelung syndrome must differ from MERRF syndrome. No one of my family has epilepsy but myopathy has almost all including the concentration of fatty masses around the neck and back of the body.
--Five persons of my family (4 of first generation and 1 of second generation have died; they suffered from myopathy in legs and hands and other parts of the body.
--In other members of my family first appeared the fatty masses around the neck and then after years the myopathy, to other members first the myopathy and then the fatty masses, all between ages 30 and 50.
--I persistently believe that the heart, like a muscle suffers from the Madelung syndrome and leads to death. All my relatives died from heart diseaces, most of them of pulmonary edema, and that because heart cannot pump the blood.
--Doctors says that heart has it's own rules, and it is other kind of muscle. I don't believe them. the facts speak for themselves.
--No one can tell from what started the mutation and what is that thing that trigger the gene and makes it to show the effects of the syndrome (myopathy and neck fat)
--A doctor recomended to me, to take the coenzume Q10 like a prevention. It is not a cure but it will help to the oxygenation of the mitochondria of the muscles cells that suffer from the diseace, and helps the myopathy of the diseace to appear more smooth.
--In some members of my family the myopathy rose sharply in one year, the results was to lead them in wheelchair and with no ability to do a thing, even to continue to do surgeries, because it is not allowed to do general anesthesia when you have myopathy .
13/07/2009
This page in Greek
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