What are Mitochondrial Disorders?

Mitochondrial disorders are caused by defects in mitochondria. Mitochondria are membrane-bound cell organelles that generate most of the chemical energy needed to power the cell's biochemical reactions. Known as the "powerhouses of the cell," they produce energy in the form of adenosine triphosphate (ATP) by breaking down nutrients and oxygen. There are many types of mitochondrial disorders. They can affect one part of the body or many parts, including the brain, muscles, kidneys, heart, eyes, and ears.

What are the symptoms of mitochondrial disorders?

Symptoms of mitochondrial diseases depend on the type and location of affected cells. They can range from mild to severe and may include:

• Muscle weakness, muscle pain, or low muscle tone.
• Vision and/or hearing loss.
• Acid reflux and/or swallowing difficulties.
• Seizures.
• Poor growth.
• Migraines.
• Respiratory (breathing) problems.
• Fainting.
• Developmental delays or cognitive difficulties.
• Diarrhea or constipation.
• Unexplained vomiting.

Symptoms of mitochondrial diseases may be present at birth or develop at any age. Healthcare providers often observe symptoms affecting multiple organs or systems simultaneously. The same disease can present differently among individuals, even within the same family.

What causes mitochondrial disease?

This disease happens because mitochondria in cells do not produce enough energy. Mitochondria make energy for the cell. When they do not receive the correct genetic instructions from DNA, cells can be damaged or die prematurely. This problem affects how organs and body systems work, causing the symptoms of mitochondrial disease.

Types of mitochondrial disorders

There are several conditions of mitochondrial disorders. Some of them are listed below:

Barth syndrome

Barth syndrome is a rare, genetic disorder of lipid metabolism that primarily affects boys and men. Lipids are fat-like substances that are important parts of the membranes found within and between cells and in the myelin sheath that coats and protects the nerves. Symptoms of Barth syndrome may include reduced muscle tone (hypotonia) and muscle weakness, fatigue, underdeveloped skeletal muscles, delayed growth, and methylglutaconic aciduria (an increase in a metabolite in the body that results in abnormal mitochondrial function).

Chronic progressive external ophthalmoplegia

Chronic progressive external ophthalmoplegia (also known as CPEO or just PEO) usually begins in a person’s adolescence or early adulthood.  PEO is often a symptom of mitochondrial disorders. In some people, it is a chronic, slowly progressive condition associated with the inability to move the eyes, general body weakness, and exercise intolerance.

Kearns-Sayre syndrome

Hallmarks of Kearns-Sayre Syndrome are PEO and pigmentary retinopathy, a “salt-and-pepper” pigmentation in the retina that can affect vision. Kearns-Sayre syndrome typically begins before age 20 and is often accompanied by heart problems, progressive limitation of eye movements until there is complete immobility, and eyelid droop. Additional symptoms may include mild skeletal muscle weakness, heart block (a type of cardiac arrhythmia), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes.

Leigh syndrome

Leigh syndrome (also known as MILS, or maternally inherited Leigh syndrome) usually begins between the ages of three months and two years. It can rarely occur in teenagers and adults.

Symptoms of Leigh syndrome usually progress rapidly, and may include loss of appetite, vomiting, irritability, loss of head control and motor skills, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, loss of muscle tone, and episodes of lactic acidosis (a buildup of lactic acid in the body), which can lead to problems with breathing and kidney function.

Mitochondrial DNA depletion syndromes

Mitochondrial DNA depletion syndromes (MDDS) begin in infancy and are characterized by progressive weakness that eventually affects the muscles used for breathing. Some forms of MDDS are marked by brain abnormalities and liver disease that gets worse over time.  Alpers disease (also known as Alpers syndrome and Alpers progressive infantile poliodystrophy) is a rare, progressive disease. Most individuals with the disease develop symptoms in the first two years of life. For others, symptoms develop between the ages of two and 25. Symptoms of Alpers disease include liver disease, changes in brain function or structure associated with an infection, abnormal increase in muscle tone or stiffness (spasticity), involuntary jerking of a muscle or group of muscles (myoclonus), dementia or other cognitive changes, seizures, and loss of vision.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

Beginning in childhood or early adulthood, the hallmarks of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (known as MELAS) are encephalomyopathy with seizures and/or dementia, lactic acidosis, and recurrent stroke-like episodes. These episodes are not typical strokes, but they can produce stroke-like symptoms in the short term (such as temporary vision loss, difficulty speaking, or difficulty understanding speech) and lead to progressive brain injury. The cause of these episodes is unclear.

Mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) typically begins before age 20 and is characterized by PEO, ptosis, limb weakness, and digestive problems, including vomiting, chronic diarrhea, and abdominal pain. Another common symptom is peripheral neuropathy (a malfunction of the nerves that can lead to sensory impairment and muscle weakness).

Myoclonus epilepsy with ragged red fibers

Myoclonus epilepsy with ragged red fibers (MERRF), which begins in late childhood or adolescence, features muscle jerks, seizures, ataxia, and muscle weakness. The disorder can cause hearing problems and short stature.

Neuropathy, ataxia, and retinitis pigmentosa

Neuropathy, ataxia, and retinitis pigmentosa (NARP) is caused by an mtDNA mutation that is also linked to MILS. The two syndromes can occur in the same family. Retinitis pigmentosa refers to degeneration of the retina, resulting in loss of vision. In addition to the core symptoms for which it is named, NARP can be associated with developmental delay, seizures, and dementia. NARP symptoms can begin anywhere from infancy to adulthood.

Pearson syndrome

Pearson syndrome involves severe anemia and pancreatic problems. Pearson syndrome begins in infancy, and children who have it usually go on to develop Kearns-Sayre syndrome.

How are mitochondrial disorders diagnosed and treated?

Mitochondrial disease will be diagnosed after a series of examinations and tests that may include:

• Neurological examination
• Medical and family history.
• Complete physical examination.
• Metabolic examination that includes blood and urine tests and, if needed, a cerebrospinal fluid test (spinaltap).
• DNA testing.

Other tests, depending on the symptoms and the affected areas of your body, might include:

• Magnetic resonance imaging (MRI) or spectroscopy (MRS) for neurological symptoms.
• Retinal exam or electroretinogram (ERG) for vision symptoms.
• Electrocardiogram (EKG) or echocardiogram for symptoms that affect your heart.
• Audiogram for hearing symptoms.
• Electroencephalogram (EEG) for seizures and related brain issues.

Treating mitochondrial disorders

Mitochondrial disease treatment varies based on the type and the symptoms. It includes:

• Taking vitamins or supplements, like riboflavin, coenzyme Q10, and carnitine.
• Taking medications to reduce symptoms, like medications to prevent seizures.
• Physical therapy, occupational therapy, or speech therapy.
• Changing your diet (nutrition) and exercising.
• Wearing assistive devices like hearing aids.

There is no specific cure for mitochondrial disease. This treatment focuses on preventing life-threatening complications, and what works for one person may differ from what works to treat someone else with the same condition.

Can mitochondrial disease be prevented?

Currently, there are no known methods to prevent mitochondrial diseases. Individuals diagnosed with mitochondrial disease are advised to avoid factors that may exacerbate symptoms, such as:

• Exposure to extreme cold and/or heat.
• Skipping meals.
• Not getting enough sleep.
• Stress.

Doctors may recommend energy conservation strategies to prevent rapid depletion of the body's energy reserves.

Why Choose Tender Palm Super-Speciality Hospital for Mitochondrial Disorders Treatment in Lucknow, India?

Tender Palm Super-Speciality Hospital offers advanced Mitochondrial Disorders treatment in Lucknow, India, at an affordable cost. We have a team of experienced neurologists and metabolic disorder specialists who provide accurate diagnosis and both non-pharmacological and pharmacological treatment options including genetic counseling, mitochondrial supplement therapy, and comprehensive multisystem rehabilitation procedures. Our Neurology and Metabolic Disorder Care team has decades of experience in successfully treating Mitochondrial Disorders in Lucknow, India.

To seek an Expert Consultation for Mitochondrial Disorders Treatment in Lucknow, India:

Call us at +91-9076972161
Email at care@tenderpalm.com

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