The Neuropathy, Ataxia and Retinitis Pigmentosa (NARP) Syndrome is a mitochondrial cytopathy affecting multiple organ systems. The presentation may be heterogeneous, depending on organ involvement.
Genetic defect: mutations in the MT-ATP6 gene of mitochondrial DNA
Clinical features:
(1) neuropathy and/or neurogenic muscle weakness
(2) ataxia, with cerebellar atrophy
(3) retinitis pigmentosa
Other findings may include:
(1) focal segmental glomerulonephritis with renal failure
(2) macular atrophy
(3) hearing loss
(4) dysarthria
(5) cardiac dysfunction
To read more or access our algorithms and calculators, please log in or register.