Myoclonus with epilepsy with ragged red fibers
Other Names for this Disease
- Fukuhara syndrome
- Merrf syndrome
- Myoclonic epilepsy associated with ragged-red fibers
- Myoencephalopathy ragged-red fiber disease
Your QuestionI have been diagnosed with MERRF and I am looking for information and treatment options for this condition that I can share with my local doctor.
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Questions on this page
- What is Myoclonic Epilepsy associated with Ragged Red Fibers (MERRF)?
- What are mitochondria?
- What are the symptoms of myoclonic epilepsy association with ragged red fibers (MERRF)?
- How is myoclonic epilepsy association with ragged red fibers treated? What are some resources that I can share with my local doctor to help manage my medical care?
- Is myoclonic epilepsy associated with ragged red fibers genetic? If so, how is it inherited?
If the mitochondria is not working well, less and less energy is generated within the cell. Cell injury and even cell death can 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 onset of mitochondrial diseases is usually during childhood, but symptoms can develop in adulthood.. 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 susceptibility to infection.
The classic features of MERRF include:
- Myoclonus (brief, sudden, twitching muscle spasms) – the most characteristic symptom
- Epileptic seizures
- Ataxia (impaired coordination)
- Ragged-red fibers (a characteristic microscopic abnormality observed in muscle biopsy of patients with MERRF and other mitochondrial disorders)
However, the exact symptoms aren't the same for everyone, because a person with mitochondrial disease can have a unique mixture of healthy and non-working mitochondria, with a unique distribution in the body.
Additional symptoms may include: hearing loss, lactic acidosis (elevated lactic acid level in the blood), short stature, exercise intolerance, dementia, cardiac defects, eye abnormalities, and speech impairment. 
Despite their many potential effects, mitochondrial diseases sometimes cause little disability. Sometimes, a person has enough healthy mitochondria to compensate for the defective ones.
Coenzyme Q10 (100 mg three times a day) and L-carnitine (1000 mg three times a day) and various vitamins, often in a “cocktail” combination are often used in hopes of improving mitochondrial function. You can read more information about treatment for mitochondrial diseases in general on the United Mitochondrial Diseases Foundation Web site at: http://www.umdf.org/site/c.dnJEKLNqFoG/b.3808231/
The prognosis for MERRF varies widely depending on age of onset, type and severity of symptoms, organs involved, and other factors.
The resources listed below may be helpful to your doctor as he/she manages your medical care:
- GeneReviews has a condition summary written for health professionals at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=merrf
- United Mitochondrial Disease Foundation provides information to assist health care providers care for individuals with mitochondrial diseases at:
- You can find relevant journal articles on MERRF disease through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using “"MERRF Syndrome"[Mesh]" as your search term should locate articles of interest. To give you an idea of the type of information you can find, click here to find a sample search.
The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to journals (print or online) or where you can get articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link: http://nnlm.gov/members/.
The mother of an individual with MERRF usually has a mitochondrial mutation and may or may not have symptoms. Or, an individual with MERRF may have a mitochondrial mutation that just occurred in them, called a de novo mutation.
If the mother has the mitochondrial mutation, all of her children will inherit the mutation and may or may not have symptoms. All of her daughters children will also inherit the mitochondrial mutation. Her son's children are not at risk of inheriting the mutation.
- Seidman, Roberta. eMedicine. Muscle Biopsy and the Pathology of Skeletal Muscle. Nov 2, 2006; http://www.emedicine.com/neuro/topic230.htm. Accessed 6/16/2008.
- DiMauro, S. and Hirano, M. MERRF. GeneReviews. September 27, 2005; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=merrf. Accessed 6/16/2008.
- Ask the Geneticist. 9-14-05; http://www.genetics.emory.edu/ask/question.php?question_id=130. Accessed 6/16/2008.
- Disease Descriptions. United Mitochondrial Diseases Foundation. http://www.umdf.org/site/c.dnJEKLNqFoG/b.3042173/#MERRF. Accessed 6/17/2008.
- Facts about Mitochondrial Myopathies. Muscular Dystrophy Association. 11/03; http://www.mda.org/publications/mitochondrial_myopathies.html#whathappens. Accessed 6/17/2008.