Mitrochondrial Disease
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- Lisa Douglas
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1 Mitrochondrial Disease - Information for patients, parents and families Neuromuscular and Neurometabolic Clinic McMaster University Medical Centre 1200 Main Street West Hamilton ON
2 What is mitochondria? Mitochondria are tiny structures inside nearly every cell in the body. Their main role is to make energy for daily life and growth. What is mitochondrial disease? Mitochondrial disease refers to a group of inherited disorders. A gene mutation affects the mitochondria and they fail to make enough energy for cells to function. When mitochondria fail, cells can become stressed, damaged or die. Depending on the number and location of the affected cells, many symptoms are possible and range from mild to severe. Each person with Mitochondrial disease may have different symptoms, even within the same family. Mitochondrial disease may affect one person or many people in a family. How do you get it? Most people with Mitochondrial disease were born with it. This is called primary Mitochondrial disease. Symptoms may appear shortly after birth or later in life. Mitochondrial disease is not infectious. You can t catch it from another person. It is not caused by something you did. There is no way to prevent it.
3 What are the symptoms? Most people with Mitochondrial disease have several of these symptoms: developmental delay dementia movement disorder (dystonia) seizures migraines or strokes muscle weakness or pain poor muscle tone poor balance unable to tolerate exercise fatigue (usually with activity) vomiting abdominal pain constipation problems with vision (low vision, droopy eyes, impaired eye movement) hearing loss heart enlargement liver or kidney disease (usually only in children)
4 How is the diagnosis made? It takes many tests and procedures to confirm the diagnosis. Diagnostic testing may include: testing blood and urine samples muscle biopsy genetic testing magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) exercise and strength testing How is it treated? The goal of treatment is to ease symptoms, improve function and slow down the progression of the disease. Treatment is not the same for everyone. It is designed for each person. Treatment consists of a combination of therapies, including diet, exercise, medications and vitamin supplements.
5 What is the prognosis? The outcomes vary from person to person. Many people with Mitochondrial disease live productive and normal lives. Some people have few symptoms or learn to adapt. Others are severely affected and Mitochondrial disease shortens their lives. Our team and others around the world are continually working to improve the quality and duration of life for people with Mitochondrial disease. Through grants and donations, we have made strides towards improved treatments. This is the main goal of the clinic and research program at the Neuromuscular and Neurometabolic Clinic. Research is underway to find better treatments and ultimately a cure.
6 How can I help? Learn more about Mitochondrial disease. Talk about Mitochondrial disease with your family, friends and in your community. Offer to have your name and contact number added to our parent support group. Support research to better understand the disease, find better treatments and search for a cure. We wish to thank Mr. Warren Lammert and Ms. Kathy Corkins for their kind and generous donation. We are also grateful to Giant Tiger and McMaster Children s Hospital Celebration for their contributions, which helped create the Neuromuscular and Neurometabolic Centre at McMaster Children s Hospital. Hamilton Health Sciences, 2007 PD /2015 WPC\PtEd\CH\Pamp\MitochondriaPORTRAIT-lw.doc dt/october 16, 2015
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