Skip to main content

Mitochondrial Diseases

Mitochondrial Diseases



Overview

Mitochondrial diseases are a group of conditions that affect how mitochondria work in your body. Mitochondria make energy in your cells. When mitochondria aren’t able to produce enough energy that your body needs, it affects how your organs function.

Mitochondrial diseases can affect almost any part of your body, including the cells of your:

Brain.

Nerves.

Muscles.

Kidneys.

Heart.

Liver.

Eyes.

Ears.

Pancreas.

What are the types of mitochondrial disease?

There are many types of mitochondrial diseases. Some of the most common include:

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.

Leber hereditary optic neuropathy (LHON).

Leigh syndrome.

Kearns-Sayre syndrome (KSS).

Myoclonic epilepsy and ragged-red fiber disease (MERRF).

Symptoms

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

Poor growth.

Muscle weakness, muscle pain or a low muscle tone.

Vision and/or hearing loss.

Developmental delays or issues with cognitive development.

Diarrhea or constipation.

Unexplained vomiting.

Acid reflux and/or swallowing difficulties.

Seizures.

Migraines.

Respiratory (breathing) problems.

Fainting.

Symptoms of mitochondrial diseases can be present at birth, but they can also arise at any age. A healthcare provider usually detects symptoms affecting more than one organ or organ system at the same time. Symptoms of the same disease can vary from person to person, even among family members.

Causes

A lack of energy production from mitochondria in your cells causes mitochondrial disease. Mitochondria are responsible for producing energy within your body. When your mitochondria don’t receive the instructions they need from your body’s DNA to make energy, it can damage your cells or cause them to die early. This affects how your organs and organ systems function, which leads to symptoms of the condition.

Risk factors

You’re more at risk of developing a mitochondrial disease if it runs in your biological family history or if you have a condition that causes secondary mitochondrial dysfunction. Mitochondrial disease affects both adults and children

Complications

Mitochondrial diseases affect how your organs function. It can cause the following complications:

Increased risk of infection.

Strokes.

Pancreatic failure.

Parathyroid failure.

Diabetes.

Liver failure.

Cardiomyopathy.

Kidney disease.

Dementia.

Gastrointestinal conditions.

Drooping eyelid (ptosis).

Complications can be life-threatening.

Diagnosis 

A healthcare provider will diagnose a mitochondrial disease after a series of examinations and tests that may include:

A review of your medical and family history.

A complete physical examination.

A neurological examination.

A metabolic examination that includes blood and urine tests and, if needed, a cerebrospinal fluid test (spinal tap).

DNA testing.

Other tests, depending on your 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.

More advanced testing could include biochemical testing, which looks for changes in body chemicals involved in energy making. A healthcare provider may perform a biopsy where they take a sample of skin and/or muscle tissue to examine it under a microscope.

Treatment

Treatment for a mitochondrial disease varies based on the type and your symptoms. Treatment could include:

Taking medications to reduce symptoms, like medications to prevent seizures.

Taking vitamins or supplements, like riboflavin, coenzyme Q10 and carnitine.

Changing your diet (nutrition) and exercising.

Physical therapy, occupational therapy or speech therapy.

Wearing assistive devices like hearing aids.

There’s no cure for mitochondrial disease. Treatment focuses on preventing life-threatening complications. Treatment that works for one person may differ from what works to treat someone else with the same condition.

Type of Doctor Department : Metabolic Specialist, Geneticist, or Neurologist

Comments

Post a Comment

Popular posts from this blog

Charge Syndrome

Overview CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing two little girls sitting on a carpet, one girl has a trach and is biting her finger.loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the ...
7 comments
Read more

Dehydration Due to Diarrheal Diseases

Overview Dehydration occurs when you use or lose more fluid than you take in, and your body doesn't have enough water and other fluids to carry out its normal functions. If you don't replace lost fluids, you will get dehydrated. Anyone may become dehydrated, but the condition is especially dangerous for young children and older adults. The most common cause of dehydration in young children is severe diarrhea and vomiting. Older adults naturally have a lower volume of water in their bodies, and may have conditions or take medications that increase the risk of dehydration. This means that even minor illnesses, such as infections affecting the lungs or bladder, can result in dehydration in older adults. Dehydration also can occur in any age group if you don't drink enough water during hot weather — especially if you are exercising vigorously. You can usually reverse mild to moderate dehydration by drinking more fluids, but severe dehydration needs immediate medical treatment. ...
Post a Comment
Read more

Ataxia with Vitamin E Deficiency

Synonyms of Ataxia with Vitamin E Deficiency AVED Familial Isolated Vitamin E Deficiency Isolated Vitamin E Deficiency General Discussion Ataxia with vitamin E deficiency (AVED) is a rare inherited neurodegenerative disorder characterized by impaired ability to coordinate voluntary movements (ataxia) and disease of the peripheral nervous system (peripheral neuropathy). AVED is a progressive disorder that can affect many different systems of the body (multisystem disorder). Specific symptoms vary from case to case. In addition to neurological symptoms, affected individuals may experience eye abnormalities, disorders affecting the heart muscles (cardiomyopathy), and abnormal curvature of the spine (scoliosis). AVED is extremely similar to a more common disorder known as Friedreich’s ataxia. AVED is inherited as an autosomal recessive trait. Vitamin E deficiency often occurs secondary to disorders that impair the absorption of vitamin E from fat including liver disorders, disorders of fat...
Post a Comment
Read more