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NARP Syndrome: Causes, Symptoms, Diagnosis, Treatment

Medical expert of the article

Children's geneticist, children's doctor
, medical expert
Last reviewed: 23.04.2024

NARP syndrome (Neurogenic weakness, Ataxia, Retinitis Pigmentosa, neuropathy syndrome, ataxia, retinitis pigmentosa) was first described in 1990. It is inherited by the maternal type.

trusted-source[1], [2]

Causes and pathogenesis of NARP syndrome

At the heart of the disease is a point mutation at the 8993 mtDNA locus, which belongs to the class of mutation mutations, when leucine is replaced by arginine in the subunit of the sixth mitochondrial ATPase. Often a correlation is revealed between the severity of clinical manifestations of the disease and the number of abnormal mtDNA (the level of heteroplasmy).

trusted-source[3], [4], [5], [6], [7]

Symptoms of NARP Syndrome

Clinical signs include the main symptoms: neuropathy, ataxia, retinitis pigmentosa. Often, children are observed a delay in neuropsychic development, spasticity, progressive dementia. However, the time of manifestation of the disease varies significantly (early and late debut). The severity ranges from malignant to benign forms. The course is progressive.

Diagnosis of NARP Syndrome

According to laboratory studies, lactate acidosis is often found, but it may not be. In the morphological study of muscles, sometimes there is a phenomenon of "torn" red fibers.

Differential diagnosis is performed with conditions accompanied by ataxia and pigment retinitis (olivopontocerebellar degenerations, Refsum's disease, abetalipoproteinemia).

trusted-source[8], [9], [10], [11]

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