NARP syndrome

Also known as: Neuropathy, ataxia and retinitis pigmentosa

Maternally inherited syndrome.

Medical specialty: Neurology
Subspecialty: Neurology / Mitochondrial disease
Sex & age distribution: Male: affected; Female: affected equally (maternal inheritance); Children: yes, childhood to adult onset; Leigh form in infants
Gene(s) involved: MT-ATP6, MT-ATP8

Etiology & mechanism

MT-ATP6 mutation.

Gene(s) involved (2)

MT-ATP6MT-ATP8

Symptoms & signs (6)

ataxiadevelopmental delayneuropathyretinitis pigmentosaseizuresweakness

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.