What is mitochondrial Cytopathy?

Mitochondrial cytopathies represent a heterogeneous group of multisystem disorders which preferentially affect the muscle and nervous systems. They are caused either by mutations in the maternally inherited mitochondrial genome, or by nuclear DNA-mutations.

What is the treatment for mitochondrial myopathy?

Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity.

What are the different types of mitochondrial disease?

Understanding Different Types of Mitochondrial Disease

  • Autosomal Dominant Optic Atrophy.
  • Alpers Disease.
  • Barth Syndrome.
  • Beta-Oxidation Defects.
  • Carnitine-Acyl-Carnitine Deficiency.
  • Carnitine Deficiency.
  • Complex I Deficiency.
  • Complex II Deficiency.

How are mitochondrial cytopathies related to other disorders?

Mitochondrial cytopathies are a diverse group of inherited and acquired disorders that result in inadequate energy production. They can be caused by inheritable genetic mutations, acquired somatic mutations, exposure to toxins (including some prescription medications),…

How are mitochondrial diseases related to the respiratory chain?

Some mitochondrial diseases are named for the part of the respiratory chain that is affected, such as complex I deficiency. A cell filled with defective mitochondria becomes deprived of ATP and can accumulate a backlog of unused fuel molecules and destructive forms of oxygen called free radicals or reactive oxygen species.

How is the diagnosis of mitochondrial disease made?

The diagnosis of mitochondrial disorders can be challenging in many cases and is based on clinical recognition, biochemical screening, histopathological studies, functional studies, and molecular genetic testing. Currently, there are no satisfactory therapies available for mitochondrial disorders that significantly alter the course of the disease.

How does mitochondrial dysfunction affect the central nervous system?

Email: [email protected] Initially identified as a cause of myopathy, mitochondrial dysfunction is now recognized as a relatively common cause of multisystem disease, affecting not only the central and peripheral nervous system but also other organs.