Mitochondrial disease and dystonia
Hi all,
I am in the process of being evaluated for mitochondrial disease. In the process I have met several adults with mito that have dystonia and dystonic attacks. The dystonia is typically generalized, but for one it started as cervical. I'm wondering if there are others here diagnosed with mitochondrial disease or who have been tested. I suspect that there are more adults and children living with dystonia who have mito than is recognized. I think this may be particularly so for children that have a complicated course of disease that leads to death. I know that this has happened with a few children that I met at DMRF with no diagnosis other than dystonia. I am wondering if these kids were ever evaluated for mito.
If you or your child has a progressive dystonia that occurs with symptoms of other systems being involved such as autonomic, gastrointestinal, respiratory, cardiac or other complicated neurological symptoms like seizures, neuropathy, joint pain, muscle weakness, migraines etc...and you are DYT1 negative then you should probably get evaluated for mitochondrial disease so that you can get treated and slow the progression of the disease.
Any thoughts on this would be appreciated. I really think we need to spread the word about this because I have a hunch that there are many out there with dystonia who have mito and are not diagnosed.
You can learn more about mito at http://www.umdf.org
Hope everyone is doing well and dystonia isn't treating you too badly.
Peace, Jen http://www.caringbridge.org/visit/jenelle
I am in the process of being evaluated for mitochondrial disease. In the process I have met several adults with mito that have dystonia and dystonic attacks. The dystonia is typically generalized, but for one it started as cervical. I'm wondering if there are others here diagnosed with mitochondrial disease or who have been tested. I suspect that there are more adults and children living with dystonia who have mito than is recognized. I think this may be particularly so for children that have a complicated course of disease that leads to death. I know that this has happened with a few children that I met at DMRF with no diagnosis other than dystonia. I am wondering if these kids were ever evaluated for mito.
If you or your child has a progressive dystonia that occurs with symptoms of other systems being involved such as autonomic, gastrointestinal, respiratory, cardiac or other complicated neurological symptoms like seizures, neuropathy, joint pain, muscle weakness, migraines etc...and you are DYT1 negative then you should probably get evaluated for mitochondrial disease so that you can get treated and slow the progression of the disease.
Any thoughts on this would be appreciated. I really think we need to spread the word about this because I have a hunch that there are many out there with dystonia who have mito and are not diagnosed.
You can learn more about mito at http://www.umdf.org
Hope everyone is doing well and dystonia isn't treating you too badly.
Peace, Jen http://www.caringbridge.org/visit/jenelle
Replies to This Discussion
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Permalink Reply by Robin Wood on -
Hi Jen,
I don't have Mito, but bkaren46 does, I thought I'd share this that she shraed with me. On another thought, Karen had a very good idea of contacting the people she mentioned to help spread the word about dystonia as well as mito.
Hi Robin,
I also have Mitochondrial Disease, and one of the symptoms is Dystonia. There has been so much in the media lately about Mitochondrial Disease.
http://www.projo.com/redsox/content/rocco26_10-26-08_MLC2ECT_v27.3a...
About Mito: Scroll down to Complex 4 it talks about Dystonia. I have Complex 1,3 and 4
http://www.umdf.org/site/c.dnJEKLNqFoG/b.3042173/k.6C37/Disease_Des...
Please let me know if you didn't get the above link's.
This was a very successful event for Mito, EJ Fogel, his daughter Taryn, with Willie G. Davidson and Davidson's wife. Davidson, of Harley -Davidson, is the Honorary Chairperson for the Love Ride.
Jay Leno has been involved raising money and spreading the word about Mito.
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Permalink Reply by bkaren46 on -
Hi Jen & Robin,
I have Mitochondrial Disease (MITO). I have been sick since 2005 and was finally diagnosed through a muscle biopsy in 2007. I have a deficiency in complex 1, 3 and 4. I have Myoclonic Epilepsy, Seizures, CD,
GI dysmotility, Myocardial infarctions status post ablation for SVT. Joint pain, muscle weakness. I am wheelchair bound. Fatigue, I have been hospitialized twice in the past two weeks. I had a seizure with a boiling cup of tea in my hand and now I have 2nd degree burns on my legs (sitting in my wheelchair) I am now a diabetic also. I am having more cardiac issues. (Mito) is primary to everything else for me. I am always fighting infections. that's all I can think of for now. I am so tired I will write again soon. Karen
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Permalink Reply by Karen B on -
Hi Jen,
My daughter Kelby was also tested for Mito last year when she was in the process of being diagnosed with Dystonia. In reading Kelby's medical records from the doctor-he made reference to a link with Mito and Dystonia. Thankfully her tests came back negative for Mito( I didn't know what it was then, but have since researched it). Good for you to take the initiative and spread the word to many people who wouldn't otherwise know about this disease.
Good luck in your quest to get to the bottom of your issues...
Karen B
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Permalink Reply by JWiff on -
After 5 years of research and testing, I am afraid the doctors are narrowing down on Mitochondria and/or Dystonia for my now 12 year old son. I am desperate to hear from other mothers to hear of how their journey began. . My son was a healthy happy child. He was diagnosed with bi-lateral sensorial hearing loss when he was 2. This was a hurdle for us, but we came to accept this. If I only knew what was to come. As the years progressed, he began falling for no apparent reason. This progressed to the point of his feet are now turning in and he wears AFO's to keep his balance. His upper legs are very weak and his legs in general are getting thinner. In between this he was diagnosed with a Kidney disease during a routine exam, they found too much protein in his urine. At his Neurology appointment this week, they have found that he has lost nerve/muscle strength in his thumbs. Since that day I have taken note of how he is already compensating with other fingers to eat and open things. I would love to hear where your story began with your daughter. What symptoms did she show that made you concerned?
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Permalink Reply by bkaren46 on
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I am an adult with mito, I was diagnosed in 2005-2006 from a fresh muscle biopsy. There are 5 complexes that we can be deficient in I have a depletion in complex 1, 3 and 4. I am going to attach the complexes and description of these complexes for you.
Mito for me has affected my muscles, severe fatigue, heat intollerance, dystonia, seizures, mito myopathy, intestinal problems. etc.
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and Complex I Deficiency
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There are three major forms of Complex I deficiency:
1) Fatal infantile multisystem disorder – characterized by poor muscle tone, developmental delay, heart disease, lactic acidosis, and respiratory failure.
2) Myopathy (muscle disease) – starting in childhood or adulthood, and characterized by weakness or exercise intolerance.
3) Mitochondrial encephalomyopathy (brain and muscle disease) – beginning in childhood or adulthood and involving variable symptom combinations which may include: eye muscle paralysis, pigmentary retinopathy (retinal color changes with loss of vision), hearing loss, sensory neuropathy (nerve damage involving the sense organs), seizures, dementia, ataxia (abnormal muscle coordination), and Myoclonic Dinvoluntary movements. This form of Complex I deficiency may cause Leigh Syndrome and MELAS.
Treatment: As with all mitochondrial diseases, there is no cure for Complex I deficiency. A variety of treatments, which may or may not be effective, can include such metabolic therapies as: riboflavin, thiamine, biotin, co-enzyme Q10, carnitine, and the ketogenic diet. Therapies for the infantile multisystem form have been unsuccessful.
The clinical course and prognosis for Complex I patients is highly variable and may depend on the specific age of onset, organs involved, and other factors.
Cause: Autosomal.
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Complex II Deficiency
Long Name: Succinate dehydrogenase deficiency.
Symptoms: Encephalomyopathy and various manifestations, including failure to thrive, developmental delay, hyoptonia, lethargy, respiratory failure, ataxia, myoclonus. Lactic acidosis common. May cause Leigh Syndrome.
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Complex III Deficiency
Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency.
Symptoms: Four major forms:
Fatal infantile encephalomyopathy, congenital lactic acidosis, hypotonia, dystrophic posturing, seizures, and coma. Ragged-red fibers common.
Encephalomyopathies of later onset (childhood to adult life): various combinations of weakness, short stature, ataxia, dementia, hearing loss, sensory neuropathy, pigmentary retinopathy, and pyramidal signs. Ragged-red fibers common. Possible lactic acidosis.
Myopathy, with exercise intolerance evolving into fixed weakness. Ragged-red fibers common. Possible lactic acidosis. Infantile histiocytoid cardiomyopathy.
Cause: Probably autosomal recessive
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.Complex IV Deficiency / COX Deficiency
Long Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain.
Symptoms: Two major forms:
1. Encephalomyopathy: Typically normal for the first 6 to 12 and even into adulthood months of life and then show developmental regression, ataxia, lactic acidosis, optic atrophy, ophthalmoplegia, nystagmus, dystonia, pyramidal signs, and respiratory problems. Frequent seizures. May cause Leigh Syndrome
2. Myopathy: Two main variants:
1. Fatal infantile myopathy: may begin soon after birth and accompanied by hypotonia, weakness, lactic acidosis, ragged-red fibers, respiratory failure, and kidney problems.
2. Benign infantile myopathy: may begin soon after birth and accompanied by hypotonia, weakness, lactic acidosis, ragged-red fibers, respiratory problems, but (if the child survives) followed by spontaneous improvement.
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Complex V Deficiency
Long Name: ATP synthase deficiency
Symptoms: Slow, progressive myopathy.
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Permalink Reply by bkaren46 on
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I also wanted to add that each person in the same family can have totally opposite symptoms. One person could be affected with muscle problems and intestinal problems. The next person same family could have seizures and Developmental delays. Mito is a complicated illness. I would recommend going to www.umdf.com to read more information there also. I hope I have helped somewhat.
Karen
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Permalink Reply by ramona on -
I have suspected this in my case and the case of our two sons, who have shown sporadic problems, also. None of us have been tested, though. I will read up on this more, as it has been a while since i did the research.
Thanks
Ramona
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Permalink Reply by bkaren46 on
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Hi Ramona,
Below are the blood tests to check for Mito.
Lab Evaluation
Glucose, glucose, glucose (pre- and post-prandial)
Electrolytes, calculate anion gap
CBC (neutropenia, thrombocytopenia and anemia are often seen in organic acid disorders and in some OXPHOS disorders)
BUN (low BUN indicates failure of urea acid cycle, either primary or secondary)
Lactate, pyruvate, and L/P ratio
Raised Lactate with L/P 10-20 indicates a disorder of pyruvate metabolism such as PDH deficiency
Raised Lactate with L/P of > 20 indicates a disorder of oxidative phosphorylation
Ammonia (elevated; seen in urea acid cycle disorders, organic acid disorders)
Creatine Kinase (CK); often mildly elevated with muscle involvement
Biotinidase level (ataxia, seizures, rash after 6 months of life)
VLCFA (neonatal peroxisomal disorders)
Amino Acids (blood and urine)
Organic Acids (quantitative; post-parandial and fasting if deemed safe)
Acyl-carnitines (blood and urine)
Skin biopsy for EM and fibroblast culture
Muscle biopsy
The best and most accurate test for Mito is a muscle biopsy
Muscle Biopsy
Muscle tissue can be used for tests that can be diagnostic, even when the above tests are normal. Because this is the most invasive test, the risks and costs of the procedure must be weighed against the chance the biopsy will yield positive results and the benefits gained by a diagnosis (treatment decisions, family planning). Before a muscle biopsy is done a plan needs to be arranged for how the muscle is distributed. References labs should be contacted before the biopsy is done so that preparation of the muscle is done correctly. Muscle can be sent for:
Routine light microscopy including modified Gomori Trichrome stain (checking for ragged red fibers)
Specific immunohistochemistry (cytochrome oxidase and COX subunits), succinate dehydrogenase, etc.
Electron microscopy (useful to view the structure of the mitochondria, evaluate for accumulation of excessive mitochondria in the subsarcolemma region and evaluate for mitochondrial proliferation).
Electric Transport Chain Activity (photometric analysis), preferably performed on fresh muscle but can be done on frozen muscle.
Oxidative Phosphorylation Activity (oxygen uptake), which can determine the activity of all five complexes, state iii and state iv respiration, respiratory control ratio and estimate efficiency of coupling of electron transport and oxidative phosphorylation. This can be run on fresh muscle only.
Enzyme activity for β-oxidation disorders including the enzymes of the β-oxidation spiral and carnitine transport.
Determination of carnitine and acyl-carnitine levels, Co-Enzyme Q10 levels.
Karen B
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Permalink Reply by beka on -
Here's a bit more abut Mitochondrial disease :
Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
The incidence about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S.
There are many forms of mitochondrial disease.
Mitochondrial disease is inherited in a number of different ways
Mitochondrial disease presents very differently from individual to individual.
There may be one individual in a family or many individuals affected over a number of generations.
The severity of mitochondrial disease symptoms is different from person to person. The most common symptoms are:
Poor Growth
Loss of muscle coordination, muscle weakness
Neurological problems, seizures
Autism, autistic spectrum, autistic-like features
Visual and/or hearing problems
Developmental delays, learning disabilities
Heart, liver or kidney disease
Gastrointestinal disorders, severe constipation
Diabetes
Increased risk of infection
Thyroid and/or adrenal dysfunction
Autonomic dysfunction
Neuropsychological changes characterized by confusion, disorientation and memory loss.
For many patients, mitochondrial disease is an inherited condition that runs in families (genetic). An uncertain percentage of patients acquire symptoms due to other factors, including mitochondrial toxins.
It is important to determine which type of mitochondrial disease inheritance is present, in order to predict the risk of recurrence for future children. The types of mitochondrial disease inheritance include:
DNA (DNA contained in the nucleus of the cell) inheritance. Also called autosomal inheritance.
If this gene trait is recessive (one gene from each parent), often no other family members appear to be affected. There is a 25 percent chance of the trait occurring in other siblings.
If this gene trait is dominant (a gene from either parent), the disease often occurs in other family members. There is a 50 percent chance of the trait occurring in other siblings. GET TESTED >>>>
Medicines or other toxic substances can trigger mitochondrial disease NEUROLEPTIC DRUGS ????
Affects multiple organs, affects multiple family members, affects multiple generations.
Lack of awareness and understanding of the disease
Families are continuously forces to expend their very limited energy to explain their disease, advocate for themselves and fight for services.
Mitochondrial disease is often an " invisible disease."
Good day - patients look fine and healthy. They have more energy and appear rested.
Bad day - - patients appear tired to significantly ill. They are obviously fatigued and/or have significant illness. Repeated "bad days"often lead to decompensation and patients have difficulty returning to baseline.
Mitochondrial disease is unpredictable. Day to day, hour to hour patients can develop symptoms and their stability can be threatened.
Difficulties establishing a diagnosis interfere with a patient's ability to obtain adequate recognition, medical care, adequate insurance coverage, healthcare supports and disability services.
Lack of understanding of the disease and misinterpretation of symptoms can lead to misdiagnosis. Further progression of symptoms can occur if the symptoms are missed and opportunities for treatment and support are not recognized.
An individual can become symptomatic at any time in life despite the fact that it is inherited.
It is difficult to diagnose.
Treatment consists of vitamin therapy and conserving energy.
The goal is to improve symptoms and slow progression of the disease.
Conserve energy
Pace activities
Maintain an ambient environmental temperature
Avoid exposure to illness
Ensure adequate nutrition and hydration
Links :
http://my.clevelandclinic.org/disorders/Mitochondrial_D
biochemgen.ucsd.edu/mmdc/ep-3-10.pdf A GREAT READ...
www.noah-health.org/en/genetic/conditions/mitoch...
http://www.mindbodyfocused.com/articles/body/fatigue/mitochondrial-...
beka
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Permalink Reply by Jen on -
Well all, I'm heading to Boston next week on the 10th and will see the mito specialist on the 13th. It is a long way to travel, but I hope to find some answers there. If you meditate or pray please think of me during this time.
Thank you,
Jen
http://www.caringbridge.org/visit/jenelle
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Permalink Reply by beka on
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Good Luck , Jen - may your trip go well and safely. Please let us know how you are...
beka
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