Types and Symptoms of Mitochondrial Disease

Mitochondrial disease is an umbrella term for many syndromes associated with mitochondrial mutations. The first two classic syndromes identified were Kearns-Sayre syndrome and Leber Hereditary Optic Neuropathy in 1988. Later, other diseases such as ophthalmoplegia, Pearson Syndrome, and Rhabdomyolysis were associated with mitochondrial mutations.

Mitochondrial disease is also associated with some cases of diabetes in humans, as well as hypertension and high cholesterol and other well-known diseases (Taylor, 2005). According to the Foundation for Mitochondrial Medicine, mitochondrial dysfunction has a role in many common diseases such as autism and Alzheimer’s disease, among others as seen in the figure below.

According to the United Mitochondrial Disease Foundation, there are dozens of symptoms in almost every organ system that could be associated with mitochondrial disease. Below is a list of organs and potential symptoms of mitochondrial disease in those systems:

  • Developmental delays
  • Dementia
  • Neuro-psychiatric disturbances
  • Migraines
  • Autistic Features
  • Mental retardation
  • Seizures
  • Atypical cerebral palsy
  • Strokes
  • Weakness (may be intermittent)
  • Absent reflexes
  • Fainting
  • Neuropathic pain
  • Dysautonomia – temperature instability&
    other dysautonomic problems
  • Weakness
  • Cramping
  • Gastrointestinal problems
  • Dysmotility
  • Irritable bowel syndrome
  • Hypotonia
  • Muscle pain
  • Gastroesophogeal reflux
  • Diarrhea or constipation
  • Pseudo-obstruction
  • Renal tubular acidosis or wasting
  • Cardiac conduction defects (heart blocks)
  • Cardiomyopathy
  • Hypoglycemia (low blood sugar)
  • Liver failure
Ears & Eyes
  • Visual loss and blindness
  • Ptosis
  • Ophthalmoplegia
  • Optic atrophy
  • Hearing loss and deafness
  • Acquired strabismus
  • Retinitis pigmentosa
Pancreas & other glands
  • Diabetes and exocrine pancreatic failure
    (inability to make digestive enzymes)
  • Parathyroid failure (low calcium)
  • Failure to gain weight
  • Fatigue
  • Unexplained vomiting
  • Short stature
  • Respiratory problems

Table retrieved from http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934631

If a patient has symptoms in 3 or more categories, the UMDF suggests for doctors to consider mitochondrial disease as a cause. Proposition 44 would require mitochondrial replacement to prevent mitochondrial disease and its debilitating symptoms before a child is born. Besides mitochondrial replacement as a prevention method, there are limited Current Treatments for Mitochondrial Disease.




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