my sister had her first baby last year who was suffering from nemaline rod myopathy.she is again pregnant can
the second child be effected.no body in the family has this. my sister and her husband both are genetically normal.my sister suffers from hypothyroidism and is on eltroxin.nemaline was detected my muscle biopsy and electron microscope test.
Nemaline myopathy is a clinically and genetically heterogeneous disorder. Both autosomal dominant and autosomal recessive forms occur. Genetic mutations found to be responsible for the disorder include the alpha-actin gene, the nebulin gene, tropomyosin 2 gene, tropomyosin 3 gene, and troponin T. The physical capabilities of a given person with NM do not correlate well either with genotype or with muscle pathology as observed in the biopsy
An autosomal dominant gene is one that occurs on an autosomal (non-sex determining) chromosome. As it is dominant, the phenotype it gives will be expressed even if the gene is heterozygous. This contrasts with recessive genes, which need to be homozygous to be expressed.
The chances of an autosomal dominant disorder being inherited are 50% if one parent is heterozygous for the mutant gene and the other is homozygous for the normal, or 'wild-type', gene. This is because the offspring will always inherit a normal gene from the parent carrying the wild-type genes, and will have a 50% chance of inheriting the mutant gene from the other parent. If the mutant gene is inherited, the offspring will be heterozygous for the mutant gene, and will suffer from the disorder. If the parent with the disorder is homozygous for the gene, the offspring produced from mating with an unaffected parent will always have the disorder. See Mendelian inheritance.
The term vertical transmission refers to the concept that autosomal dominant disorders are inherited through generations. This is obvious when you examine the pedigree chart of a family for a particular trait. Because males and females are equally affected, they are equally likely to have affected children.
Although the mutated gene should be present in successive generations in which there are more than one or two offspring, it may appear that a generation is skipped if there is reduced penetrance.
In genetics, the term "recessive gene" refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele) and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father. If a genetic trait is recessive, a person needs to inherit two copies of the gene for the trait to be expressed. Thus, both parents have to be carriers of a recessive trait in order for a child to express that trait. If both parents are carriers, there is a 25% chance with each child to show the recessive trait.
The term "recessive gene" is part of the laws of Mendelian inheritance created by Gregor Mendel. Examples of recessive genes in Mendel's famous pea plant experiments include those that determine the color and shape of seed pods, and plant height. (+ info
what is the name of the type of myopathy relater to nerve damage due to uncotoled diabetes?
I was just diagnosed but forgot what type of myopathy he called it. Can you help?
most doctors call it diabetic neuropathy. peripheral neuropathy as someone else stated can be caused by a number of factors... not nessecarily diabetes. here's a link to all the different types and locations that can be effected
http://diabetes.niddk.nih.gov/dm/pubs/neuropathies/ (+ info
How do you file for SSDI with a mitochondrial myopathy condition?
I have been diagnosed with a mitochondrial myopathy and would like to know how to file for social security.
What chromosome is the genetic disorder Myofibrillar Myopathy on?
My father's mother has the disease, and I'm trying to figure out if it was passed to my Dad, my brother, and I. What chromosome is it on? Any other information is welcome, and if you know of a site where I can talk to a geneticist or other expert, please give me a link. Thanks!
It is inherited in an autosomal dominant manner, which mean your dad has a 50% chance to inherit it, and you have a 25% chance. As you dad gets older and lives through some of his risk, those chances go down. I great resource for genetic disorders is genetests.com. It can be hard to navigate if you're not used to it, so here's a link for you: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mfm
Without knowing more details, or what you do/don't understand, I can't give more info right now. If you have specific questions, feel free to email me. (+ info
Any professional athletes that have a mitochondrial myopathy disorder?
Is there any other professional athelet (other than Rocco Baldelli) that have any kind of mitochondrial myopathy disorder?
Is there any information on them and how they deal with it?
Quit taking statin drugs, do take CoQ10 and selenium. (+ info
How i totally can remove my cousin genetic limb-gridle myopathy.?
My cousin Arif has genetic limb-gridle myopathy.He suffered this disease for about 10 years.Please find solution to remove
from these type of disease for ever.
No definitive treatments for the limb-girdle muscular dystrophies exist. Management is tailored to each individual and each specific subtype. Management to prolong survival and improve quality of life includes weight control to avoid obesity, physical therapy and stretching exercises to promote mobility and prevent contractures, use of mechanical aids to help ambulation and mobility, surgical intervention for orthopedic complications, use of respiratory aids when indicated, monitoring for cardiomyopathy in subtypes with cardiac involvement, and social and emotional support and stimulation
Kitty (+ info
What do you know about hypertropic cardio myopathy?
My bro was diagnosed with congenital HCM but the doctor does not give him any medications..if one have this kind of condition, what are the risks, if any..what things to avoid? can this condition be treated or at least controlled?
There is a good discussion on the subject at
which covers all the areas mentioned in your question. (+ info
Are there any treatments for Idiopathic Myopathy?
My art teacher and best friend suffers from this illness. Is a type of Muscular Dystrophy and lately he's been feeling weaker and weaker and actually fears that he might be fading away... I love him very much and wish I could help him in any way, but I can't, so please, if anyone knows anything about this conditions and what changes he has in try to to control it would be appreciated. I'm afraid to lose him and he's got children that need him too. He's just 47 years old. Forced into retirement from the illness.
A treatment being considered at the moment is hematopoietic stem cell transplantation..the trials are still going on and I believe won't be complete for another few years.. this is a progressive condition that will unfortunately get worse over time. (+ info
what in the world is a myopathy? I do not know if it is spelled right, but that is what the doctors said I had
I have had a serious brain injusy in the past, it might have to do with that!
NINDS Myopathy Information Page (+ info
Is there any good research centre in India where I can consult for my neurogenic problem?
I am looking for a good research centre where I can go and put my problem of distal myopathy in India.
plese describe distal myopathy....any neurogenic problem can be cured with right food and right drinks...follow this method for one month...
when the body is having a disease, the patient should not be given a nutritious food... he should be asked to fast for 7 or 10 day... but he can take unlimited fruits(not sweet) and uncooked vegetables... this is also called semi-fasting method...during semi-fasting, the bodies energies will be conserved to fight and throw out the disease...that is why , patients are asked to stop so many negative foods ...all high nutritious foods are negative foods for sick people...
sages consider water and uncooked vegetables as gods...by taking daily ,2 or three coldwater headbaths, you will be incresing your disease... yes, you are correct... by increasing or aggravating the disease, we can throw out the disease...
a person requires so much culture and intelligence, to understand the basic principles of holistic healing ... this is part of yoga and spirituality...this is great indian science...
i am telling you about indian thinking, which the new generation has forgotten or is ignorant of culture...though this is called hindu thinking , these methods are prevalent in china,egypt japan,and east asia...
that is why , i am doing this service to sick people in yahoo and otherwise, to awaken people of their slumber...this is great Hindu method,which does not require any expenditure to cure any type of disease...write me...email@example.com
holistic healing method may take 20 or more days....
you should avoid
`1. all milk products, namely milk,curd,buttermilk(chas-hindi),tea,cof… for two months..
2...you should avoid all sweets made of sugar, gur,honey...
3...you should avoid all sweet fruits for one month(mango,sapota,papaya,etc)and cool drinks.
4...you can take all wheat and rice preparations,ragi java,...
5. you should take daily 400 gms of uncooked cucumber( or 100 gms of radish) and 3 betel leaves daily.
6.you should avoid smoking and alcohols,nonveg,fish,eggs for 2months
write me firstname.lastname@example.org (+ info
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