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| 28/04/2011 09:41:55 |
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| Running for Wheels of Experience |
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| Annette's childhood friend Fliss and her friend Jenn are running for Wheels of Experience - please sponsor them! |
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| 01/12/2010 19:58:21 |
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| The Wheels of Experience Pamper Evening |
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| Our first fundraising event for the 'Wheels of Experience' raises £1,173.96! |
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| 13/09/2010 15:47:01 |
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| Sophie's Switch Toys |
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| A great blog on the 'One Switch' site about Sophie and her switch toys |
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| RECENT BLOGS |
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| 31/12/2011 09:27:20 |
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| Wishing everyone a happy and healthy 2012 |
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| We would like to wish everyone a happy and healthy new year |
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| 29/11/2011 21:32:07 |
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| Autumn 2011 - A busy few months! |
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| Sophie is enjoying school, had fun on a special weekend away, met Bob the Builder and has a new cousin! |
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SYMPTOMS OF MITOCHONDRIAL DISEASE
The complex cellular specialisation of mitochondria leads to a dizzying
array of signs and symptoms that physicians at specialised referral
centers have come to recognise as characteristic of mitochondrial
disease. Symptoms may be totally absent in healthy patients who are
silent carriers, or range from clumsiness, to migraines, seizures,
diabetes, cancer or catastrophic metabolic disease. Many
combinations of symptoms are possible. Even physicians working in
highly specialised referral centers who see hundreds of cases of
mitochondrial disease every year are struck by the great diversity of
signs and symptoms.
Commonly Affected Systems in Mitochondrial Disorders.
Source: Mitochondria Research Society
Problems Associated with Mitochondrial Cytopathies
Organ/ System |
Possible Problems |
Brain |
Developmental delays, mental retardation, dementia, seizures,
neuro-psychiatric disturbances, atypical cerebral palsy, migraines,
strokes. |
Nerves |
Weakness (which may be intermittent), neuropathic pain, absent
reflexes, gastrointestinal problem (gastroesophogeal reflux, delayed
gastric emptying, constipation, pseudo-obstruction), fainting,
absent or excessive sweating resulting in temperature regulation
problems. |
Muscles |
Weakness, hypotonia, cramping, muscle pain. |
Kidneys |
Proximal renal tubular wasting resulting in loss of protein,
magnesium, phosphorous, calcium and other electrolytes. |
Heart |
Cardiac conduction defects (heart blocks),
cardiomyopathy. |
Liver |
Hypoglycemia (low blood sugar), liver failure |
Eyes |
Visual loss and blindness |
Ears |
Hearing loss and deafness |
Pancreas |
Diabetes and exocrine pancreatic failure (inability to make
digestive enzymes). |
Systemic |
Failure to gain weight, short statue, fatigue, respiratory
problems including intermittent air hunger. |
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Rules of Thumb - Think mitochondria when
- A "common disease" has atypical features that set it apart from the
pack
- Three or more organ systems are involved
- Recurrent setbacks or flare ups in a chronic disease occur with
infections
Source: United Mitochondrial Disease Foundation |
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