Facts

When To Suspect Mitochondrial Dysfuntion

There is no one identifying feature of mitochondrial disease. Patients can have combinations of problems whose onset may occur from before birth to late adult life. Mitochondrial diseases should be considered in the differential diagnosis when there are these unexplained features, especially when these occur in combination:
  • Encephalopathy
    • Seizures
    • Developmental Delay or Regression (including early and late-onset dementia)
    • Myoclonus
    • Movement Disorders (dystonia, dyskinesias, chorea, etc.)
    • Complicated Migraine
    • Stroke
    • Neuropathy
    • Cardiac Conduction
    • Defects or Cardiomyopathy
    • Hearing Deficits
    • Short Stature
    • Disorders of Extraoccular muscles
      • ptosis
      • acquired strabismus
      • ophthalmoplegia
    • Diabetes
    • Renal tubular disease
    • Visual Loss
      • retinitis pigmentosa
      • optic atrophy
    • Lactic acidosis (may be mild)

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.

Taken from Mitochondrial News, Spring 2000 Issue By Robert K. Naviaux, M.D., Ph.D.

Problems Associated with Mitochondrial Cytopathies
Organ System Possible Problems
Brain Developmental delays, mental retardation, dementia, seizures, autism, neuro-psychiatric disturbances, atypical cerebral palsy,atypical migraines, strokes or stroke like behavior.
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, ptosis, opthalmoplegia.
Kidneys Proximal renal tubular wasting resulting in loss of protein (amino acids), magnesium, phosphorous, calcium and other electrolytes (fanconi syndrome).
Heart Cardiac conduction defects (heart blocks), cardiomyopathy.
Liver Hypoglycemia (low blood sugar), liver failure.
Eyes Visual loss, blindness, optic neuropathy, retinitis pigmentosa.
Ears Hearing loss, aminoglycoside sensitivity, 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.
 
Source: www.umdf.org