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: |
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.
|