What are the 5 Symptoms of Mitochondrial Disease?

Top 5 Warning Signs of Mitochondrial Disease Explained

Mitochondria are the "powerhouse of a cell", where oxygen is processed and substances from foods are converted to energy. They are responsible for creating around 90% of the body's energy, which helps the body function.

Leigh syndrome, LHON, and MELAS are genetic conditions interrupting mitochondria's energy-generating ability.

What are the Symptoms of Mitochondrial Disease?

The defects in mitochondria can affect single as well as multiple parts of the body. The symptoms vary since a patient can have a combination of healthy cells and defective cells.

The following are some symptoms of mitochondrial disease:

Mitochondrial Myopathy

People suffering from mitochondrial myopathy struggle with muscle movements. The term "myo" means muscle, and "pathy" means disease. The muscle and nerve cells lack sufficient energy to function properly.

Mitochondrial myopathy mainly has three symptoms:

• Muscle Fatigue: Among some individuals, muscle fatigue is particularly seen in muscles around the eyes, meaning muscles that control eye and eyelid movements. Eventually, these muscles become paralysed. This is called Progressive External Ophthalmoplegia (PEO).

People suffering from PEO sometimes experience drooping eyelids, also known as ptosis. These patients have a hard time moving their eyes from side to side and up and down.

• Weakness: Weakness in a muscle sometimes leads to loss of muscle, mostly in the face and neck. This can cause difficulty in eating and swallowing.
• Exercise Intolerance: Exercise intolerance, or exertional fatigue, refers to unexplained feelings of exhaustion that take place because of physical exertion. Whereas some people experience exertional fatigue while jogging, others face the same with minimal body activities like walking or simply doing chores.

Mitochondrial Encephalomyopathy

In this condition, patients suffer from neurological disorders besides muscle weakness. For example, an individual with mitochondrial encephalomyopathy will struggle to move muscles around their eyes and have vision loss since the disease affects the part of the brain responsible for vision.

LHON (Leber Hereditary Optic Neuropathy)

It is a rare genetic disorder caused by a mitochondrial disorder. People with LHON lose their vision unexpectedly within a few months. It mostly takes place during the teen years.

Lactic Acidosis

Lactic acidosis is a condition where lactic acid builds up in the blood, making it too acidic. This usually happens when the body produces too much lactic acid (like during intense exercise or in shock), or the body can’t clear it fast enough (due to liver or kidney problems).

Respiratory Problems

When a mitochondrial disorder affects the muscles that help with breathing and swallowing, it causes respiratory problems. Patients with this health condition suddenly struggle with a lack of oxygen in their sleep. The weakness in the muscle obstructs the airway, which causes snoring, periods of not breathing at night and decreased endurance.

Other common symptoms of mitochondrial diseases are seizures, migraines, hearing loss, poor growth rate and diarrhoea.

Diagnosis and Treatment

Healthcare professionals focus on the patient's family history at first. Then, they proceed to do physical and neurological examinations, including MRI, DNA testing, EKG and EEG.

The treatment of mitochondrial disease depends on the symptoms. Vitamin supplements help to manage the symptoms. In addition, changing diet, occupational therapy, and exercise help as well.

Multiple health reports have found that the heterogeneity in clinical presentation and genotype makes mitochondrial disease cases go underdiagnosed in India. Although there are no ways to prevent this disease, researchers are constantly working on finding proper ways to diagnose and prevent this disease.