MITOCHONDRIAL DISEASES

TYPES

Mitochondrial diseases happen when a child has no normal pair of genes from the parents. The inherited types are:

• Autosomal recessive inheritance. It has a 25% chance that each child will inherit a mitochondrial disorder.

• Autosomal dominant inheritance. It has a 50% risk that each child will inherit a mitochondrial disorder.

• Mitochondrial inheritance. This rare type of inheritance has a 100% risk that each child will inherit a mitochondrial disorder
• Random mutations. These are rare cases where mitochondrial disorder is not inherited from parents.

SYMPTOMS 

The symptoms of mitochondrial diseases range from mild to extreme, affecting one or more organs of people at any age. Furthermore, some people have various signs, severity, and onset symptoms.

Symptoms may include:

• Poor development
• Autism-like characteristics
• Hearing or vision problems
• Muscle weakness and pain
• Exercise intolerance and short muscle tone
• Delayed development
• Learning difficulties 
• Heart, kidney, and liver disease development
• Diabetes
• Vomiting, constipation, cramping, and reflux
• Thyroid problems
• Breathing problems
• Dementia

DIAGNOSIS

Diagnosing mitochondrial diseases can be challenging as it affects various tissues and organs of the body with multiple symptoms.

The doctor will conduct these examinations and tests:

• Patient’s family history
• Thorough physical examination
• Neurological examination
• Metabolic examination

Furthermore, other tests are conducted depending on the symptoms, such as:

• Neurological symptoms – Magnetic resonance imaging (MRI) or spectroscopy (MRS).
• Vision symptoms – Retinal exam or electroretinogram (ERG).
• Heart disease – Electrocardiogram (EKG) or echocardiogram.
• Hearing symptoms – Audiogram for auditory-brainstem evoked responses (ABER). 
• Thyroid problems – Blood test.
• Blood test for genetic DNA testing.
• Biopsy
• Skin and muscle tissue tests

TREATMENT

There are no treatments for mitochondrial diseases. However, there are treatments for decreasing its symptoms.

• The vitamins and supplements are Coenzyme Q10, B complex vitamins, especially thiamine (B1) and riboflavin (B2), Alpha lipoic acid, L-carnitine (Carnitor), Creatine, and L-Arginine
• Exercises
• Conserving energy
• Speech therapy
• Physical therapy
• Occupational therapy
• Respiratory therapy.

Avoid doing activities that may worsen your medical condition. You can ask your doctor if you have issues or concerns.