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NARP syndrome

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Definition

noun

A type of mitochondrial myopathy with dysfunctional nerves thus leading to sensory impairment, ataxia, and retinitis pigmentosa


Supplement

NARP syndrome is a type of mitochondrial myopathy. A mitochondrial myopathy is a type of myopathy associated with mitochondrial dysfunction. One of the major distinctions of this condition is the inability of the muscle to perform properly. In mitochondrial myopathies, the underlying cause is a dysfunctional mitochondrion due to a pathological mutation in the mitochondrial DNA. In NARP syndrome, the underlying cause is a pathological mutation involving the MT-ATP6 gene. This gene normally codes for a protein that is a component of the enzyme ATP synthase. Thus, the enzyme would not be able to function properly during ATP synthesis. The name NARP is an acronym and it stands for neuropathy, ataxia, and retinitis pigmentosa. These are the main symptoms associated with this particular disorder. Neuropathy pertains to the nerve impairment whereas ataxia is the lack of muscle coordination. Retinitis pigmentosa is the degeneration of the retina and subsequently results in the loss of vision. Other symptoms include seizures, dementia, and developmental delay.

NARP syndrome is inherited in a mitochondrial pattern. This means that the individual with this condition inherited the disorder from their carrier mother. This form of inheritance is referred to as maternal inheritance. This is because the egg cell is the source of the mitochondrial DNA.



Synonym(s):

  • Neuropathy-ataxia-retinitis pigmentosa syndrome
  • Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome

See also: