| |
|
| 01/08/2010 07:37:19 |
 |
| Thank you to 'Stitches of Love and Kindness' |
|
| A massive thank you to everyone at 'Stiches of Love and Kindness' who helped to make Sophie's beautiful handmade quilt. |
|
| Read More >> |
|
|
|
| 06/04/2010 19:17:04 |
|
| Thank you to Jaxson's Blankies for Babes |
|
| A special thank you to Jaxson's Blankies for Babes for the special blanket sent to Sophie |
|
| Read More >> |
|
|
|
| 14/12/2009 21:45:16 |
|
| The Holly Bush launch new website |
|
| The Holly Bush country pub based in Frensham launch their own website. |
|
| Read More >> |
|
|
|
| View All News >> |
|
|
|
|
| RECENT BLOGS |
|
|
| 01/09/2010 21:37:57 |
|
| Sophie loves her new train set! |
|
| Sophie has lots of fun playing with her new switch adapted Thomas the Tank Engine train set |
|
| Read Blog >> |
|
|
|
| 16/08/2010 21:51:39 |
|
| Lots of Water Fun and an Energy Crash |
|
| Sophie had a great July with lots of tomboy fun. Unfortunately the end of July and early August bought with it an energy crash. |
|
| Read Blog >> |
|
|
|
| View All Blogs >> |
|
|
|
|
|
|
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. |
|
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 |
|