As I mentioned in an earlier post, a friend’s wife has a very serious mitochondrial disease that caused an occipital obe stroke at a young age. This sad event led me to review mitochoncrial disease.
For a list of the tests often indicated when mitochondrial disease is suspected see the UMDF web page “Getting A Diagnosis“.
An excellent resource from the National Institutes of Health is the Genetics And Rare Diseases Information Center’s web page Tips For The Undiagnosed.
And the question of when should you suspect mitochondrial disease is answered on the web page “Possible Symptoms” of the United Mitochondrial Disease Foundation site [ [An additional very useful resource is the National Organization for Rare Disorders (NORD) which publishes the very useful NORD Physician Guides: Rare Disease Resources For Medical Professionals]. All that follows is from the web page “Possible Symptoms”:
Mitochondrial Disease should be suspected when three or more organ systems are involved.
BRAIN
Developmental delays Migraines Seizures Dementia Autistic Features Atypical cerebral palsy Neuro-psychiatric disturbances Mental retardation Strokes NERVES
Weakness (may be intermittent) Fainting Absent reflexes Neuropathic pain Dysautonomia Temperature Instability MUSCLES
Weakness Irritable bowel syndrome Gastroesophogeal reflux Cramping Diarrhea or constipation Hypotonia Gastrointestinal problems Pseudo-obstruction Dysmotility KIDNEYS
Renal tubular acidosis or wasting HEART
Cardiac conduction defects (heart blocks) Cardiomyopathy LIVER
Hypoglycemia (low blood sugar) Liver failure EARS & EYES
Visual loss and blindness Optic atrophy Acquired strabismus Ptosis Ophthalmoplegia Retinitis pigmentosa Hearing loss Deafness PANCREAS & OTHER GLANDS
Diabetes Exocrine Pancreatic Failure Parathyroid failure SYSTEMIC
Failure to gain weight Unexplained vomiting Respiratory problems Fatigue Short stature
