If Mitochondrial Disease is So Common…

Question: If mitochondrial disease is so common I wonder why
it took so many years to diagnose?

Answer: Because mitochondrial disease is multi-systemic, it
is hard to diagnose.

Overview of Mitochondrial Disease:
Mitochondrial disease or dysfunction is an energy production problem. Almost all cells in the body have mitochondria, which are tiny “power plants” that produce a body’s essential energy.

cellMitochondrial disease means the power plants in cells don’t function properly. When that happens, some functions in the body don’t work normally. It’s as if the body has a power failure: there is a gradation of effects, like a ‘brown out’ or a ‘black out’.

Scientifically, it is actually a category or group of diseases. That’s why mitochondrial disease takes many
different forms and no two people may look alike.

A few things to remember…

Mitochondrial disease awareness is where Autism and Alzheimer’s Disease were 25 years ago.
Drug development is in very early stages; currently there is no cure.
Diagnosis is a long process resulting in some answers and many more questions.
The few doctors specializing in mitochondrial medicine are focused on diagnosis and research. Day-to-day management is left to family practitioners or other specialists who turn to trusted internet sources for help.

Mitochondrial disease primarily affects brain, heart and muscle in varying levels of severity. Depending on which
cells of the body are affected, symptoms may include:
muscle weakness and loss
vision/hearing loss
social/behavior disorders
respiratory disorders
learning disabilities
poor growth
thyroid problems
gastrointestinal disorders
neurological problems
Though the impression most have of mitochondrial disease is a disorder that presents itself at birth, it can appear at any age. For some it develops over time. We’re learning
it’s not at all rare but, due to a lack of physician and public awareness, this disease is not often diagnosed. Only
in the past 10 years, with advances in genetics and molecular biology, have we a better understanding of the
complexity in mitochondrial disorders. Even so, the definitive cause (or causes) of mitochondrial disease
continues to evolve.


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