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Mitochondria related rare diseases

Friedreich's Ataxia:
Friedreich's ataxia (FRDA) is a genetic, progressive, neurodegenerative movement disorder.
Barth Syndrome:
a rare, Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria.
Systemic Primary Carnitine Deficiency:
a rare metabolic disorder in which the body cannot properly process fats into energy.
Central Core Disease of Muscle:
a rare genetic neuromuscular disorder that is classified as a congenital myopathy.
Congenital Lactic Acidosis:
most causes of congenital lactic acidosis are due to genetic mitochondrial enzyme deficiencies.
Congenital Muscular Dystrophy: 
progressive muscle weakness and degeneration (atrophy).
Cytochrome C Oxidase Deficiency:
COX is an essential enzyme to regulate energy production (mitochondria).
dystonia is twisting, repetitive movements that affect the neck, torso, limbs, eyes, face, vocal chords, muscle.
Kearns Sayre Syndrome:
a rare neuromuscular disorder. progressive paralysis of certain eye muscles, cardiomyopathy.
Leber Hereditary Optic Neuropathy: 
LHON is caused by mutations in mitochondrial DNA.
Leigh Syndrome:
a rare genetic neurometabolic disorder characterized by the degeneration of the central nervous system.
Levy-Yeboa Syndrome: 
multi-system disorder involving signs of musculoskeletal involvement.
Maternally Inherited Leigh Syndrome and NARP Syndrome: 
neuropathy, ataxia and retinitis pigmentosa (NARP) syndrome are rare genetic multisystem disorders that are part of a spectrum or continuum of disease caused by abnormalities affecting mitochondrial energy production.


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