Mitochondrial Disease

February 25, 2021
Janelle Thomas MSN, RN
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If you remember your biology class from school, you know that the mitochondria are the powerhouse of the cell. That’s because the mitochondria create energy to power your body. But, you don’t have to be an expert in biology to know when you feel low in energy. Is it from lack of sleep? Are you not getting enough nutrients? Or, is the issue more underlining?

What is mitochondrial disease?

Mitochondrial disease is a chronic, genetic, and often inherited condition that occurs when the mitochondria fail to produce enough energy for the body to function properly. It can be present at birth but can also develop over time. When the mitochondria fail, it can impact the:

  • Brain
  • Nerves
  • Muscles
  • Kidneys
  • Heart
  • Liver
  • Eyes
  • Ears
  • Pancreas

Mitochondrial Disease Causes

Since mitochondrial disease is a genetic disorder, it’s typically passed from parent to child. How that gene is inherited can differ from one person to the next and impacts how the disease is passed to future generations. The different inheritance types include:

  • Autosomal recessive inheritance The child receives one mutated copy of a gene from each parent, and there is a 25% chance that each child in the family will inherit the condition.
  • Autosomal dominant inheritance The child receives one mutated copy of a gene from either parent, and there is a 50% chance that each child in the family will inherit the disease.
  • Mitochondrial inheritance: The mitochondria contain their own DNA and the mutations in the mitochondrial DNA are exclusively inherited from mothers resulting in a 100% chance that each child in the family will inherit the mitochondrial disease.
  • Random mutations: The genes develop a mutation of their own, and it is not inherited from a parent.

Aside from random mutations, other conditions may cause the mitochondria to fail to produce enough energy. When this occurs, it’s known as secondary mitochondrial dysfunction and can be caused by:

Mitochondrial Disease Symptoms

There are various symptoms of the condition that can range from mild to severe. Even children and parents in the same family can have varying signs and severity of the condition. In addition to feeling sluggish, common symptoms of mitochondrial disease include:

  • Poor growth
  • Muscle weakness, muscle pain, low muscle tone, and/or exercise intolerance
  • Vision and/or hearing problems
  • Learning disabilities, delays in development, and mental retardation
  • Autism, autism-like features
  • Heart, liver, or kidney diseases
  • Gastrointestinal disorders, swallowing difficulties, diarrhea or constipation, unexplained vomiting, cramping, or reflux
  • Diabetes
  • Increased risk of infection
  • Neurological problems, seizures, migraines, and strokes
  • Movement disorders
  • Thyroid problems
  • Respiratory (breathing) problems
  • Lactic acidosis (a buildup of lactate)
  • Dementia

Mitochondrial Disease Treatment Options

Treatment plans vary from person to person depending on the severity of the condition and how they respond to treatment options. Even parents and children within the same family may have different treatment plans. In most cases, mitochondrial disease plans may include some or all of the following medicaments:

  • Vitamins and Supplements — such as Coenzyme Q10, B complex vitamins, Alpha lipoic acid, L-carnitine (Carnitor), Creatine, and L-Arginine
  • Exercises — including endurance exercises and resistance/strength training, such as walking, running, swimming, dancing, cycling, sit-ups, arm curls, and lifting weights, among others
  • Conserving energy by pacing yourself and limiting strenuous activities at a single time
  • Therapy — including speech, physical, respiratory, and occupational

Contact Care Options for Kids for Home Health Care

It can be hard to balance your time between work, home, and caring for a child. That’s why our team of skilled professionals at Care Options for Kids is here to help.

Our home health care services offer support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.

If you or a loved one are considering Pediatric Home Health Care Services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.