Most people with a mitochondrial disease experience symptoms that affect multiple systems at the same time.

There are a variety of symptoms that people might see before, or after, they have been diagnosed with Mito.

Mito symptoms can be mild or severe, differ by individual, and depend on which cells of the body are affected. The two most common mito symptoms are muscle weakness and exercise intolerance which leads to feelings of exhaustion. Mito affects different parts of the body, and patients often have symptoms affecting multiple organ systems. Organs most commonly affected include the brain, nerves, heart,pancreas, liver, eyes, and kidneys. This is because each of these relies very heavily on energy production from the mitochondria to function properly.

Mito symptoms may include impaired hearing and vision, ataxia (challenges with balance, coordination and speech), seizures, learning disabilities and poor growth. Children with mito may have difficulty developing certain skills, such as sitting, crawling, walking, speaking and learning. Remember that no one symptom can give a diagnosis; it’s a combination of symptoms and how they continue to present over time, and during certain activities, that need to be considered.

Since most people with mito experience symptoms that affect multiple systems simultaneously, common symptoms are grouped and referred to as syndromes. Symptoms of mito syndromes are outlined in the charts below.

Syndrome Syndrome Symptoms

Barth Syndrome

Infancy or early childhood (sometimes adulthood)

Mainly impacts males

  • Enlarged heart
  • Increased rate of infections
  • Delays in growth before puberty
  • Muscle weakness and low muscle tone (hypotonia)
  • Specific facial appearance (round face, full cheeks, pointed chin, large ears, deep-set eyes)
  • Certain laboratory findings: high lactate, low white blood cell count, low cholesteol, increased 3-methylglutaconic acid and 2-ethylhydracrylic acid in urine or blood, increased monolyso-cardiolipin: cardiolipin ratio

CPEO

Chronic Progressive External Ophthalmoplegia

Adolescence or early adulthood

  • Weakness of the eye muscles leading to decreased ability to move the eyes
  • Ptosis (weakness of the eyelid muscle leading to drooping of the eyelids)

KSS

Kearns-Sayre Syndrome

Before age 20

  • Weakness of the eye muscles with decreased eye mobility
  • Ptosis (weakness of the eyelid muscle leading to drooping)
  • Abnormal pigment in the back of the eye (pigmentary retinopathy) which may affect vision
  • Failure to thrive
  • Abnormal heart rhythm
  • Ataxia (poor muscle control)
  • Certain laboratory findings (increased protein in cerebrospinal fluid)

Leigh Syndrome

When inherited through mtD- NA, it may be called Maternally Inherited Leigh Syndrome (MILS)

Infancy or early childhood

  • Weakness of the eye muscles with decreased eye mobility
  • Ptosis (weakness of the eyelid muscle leading to drooping)
  • Abnormal pigment in back of the eye which may affect vision
  • Failure to thrive
  • Abnormal heart rhythm
  • Ataxia (poor muscle control)
  • Certain laboratory findings (increased protein in cerebrospinal fluid)

MDS

Mitochondrial DNA Depletion Syndrome

Infancy to adulthood

  • Impaired energy production affecting muscle, liver, brain and kidneys • Intractable seizures
  • Liver problems
  • Ataxia (poor muscle control)
  • Weakness and numbness in the limbs
  • Hearing loss
  • Difficulty with eye movements and drooping eyelids • Difficulty gaining weight

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis, and stroke-Like Episodes Syndrome

Childhood to early adulthood. Onset may be as late as 40 years

  • Dementia
  • Seizures
  • Migraine headaches
  • Stroke-like episodes
  • Recurrent vomiting
  • Weight loss
  • Exercise intolerance and weakness
  • Hearing loss

MNGIE

Mitochondrial Neurogastrointestinal Encephalomyopathy

Infancy to adulthood, usually before age 20

  • Difficulty moving food through the digestive tract
  • Peripheral neuropathy (numbness/weakness in limbs, hands, feet) • Ptosis
  • Ophthalmoplegia
  • Hearing loss
  • Leukoencephalopathy (abnormal white matter in brain)

MERRF

Myoclonus Epilepsy with Ragged Red Fibres

Childhood to adulthood

  • Muscle twitching (myoclonus)
  • Seizures
  • Ataxia (poor muscle control)
  • Muscle weakness and exercise intolerance
  • Hearing loss
  • Dementia
  • Enlarged heart muscles

NARP

Neuropathy, Ataxia,and Retinitis Pigmentosa

Infancy to adulthood

  • Peripheral neuropathy
  • Muscle weakness
  • Ataxia (poor muscle control)

Pearson Syndrome

Infancy

  • Anemia that usually requires frequent transfusions
  • Signs of pancreas dysfunction