When Should You Suspect Mitochondrial Disease – Help From UMDF

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.


Developmental delays Migraines Seizures
Dementia Autistic Features Atypical cerebral palsy
Neuro-psychiatric disturbances Mental retardation Strokes


Weakness (may be intermittent) Fainting Absent reflexes
Neuropathic pain Dysautonomia Temperature Instability


Weakness Irritable bowel syndrome Gastroesophogeal reflux
Cramping Diarrhea or constipation Hypotonia
Gastrointestinal problems Pseudo-obstruction Dysmotility


Renal tubular acidosis or wasting


Cardiac conduction defects (heart blocks) Cardiomyopathy


Hypoglycemia (low blood sugar) Liver failure


Visual loss and blindness Optic atrophy Acquired strabismus
Ptosis Ophthalmoplegia Retinitis pigmentosa
Hearing loss Deafness


Diabetes Exocrine Pancreatic Failure Parathyroid failure


Failure to gain weight Unexplained vomiting Respiratory problems
Fatigue Short stature
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