What is NARP SYNDROME?

rare mitochondrial inheritance mutations in the mitochondrial ATP synthase 6 gene

Gibt es eine deutsche Bezeichnung?

NARP [Neuropathie, Ataxie, Retinitis pigmentosa]-Syndrom

Disease	NARP SYNDROME
Synonym	NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
OMIM	551500 OMIM = Online Mendelian Inheritance of Men
Orphanet	644
Gene locus	unkwown
ICD	G31.8
Summary	rare mitochondrial inheritance mutations in the mitochondrial ATP synthase 6 gene
Laboratory findings	Citrulline normal/dec (plasma)
Symptoms	apnea ataxia blindness, visual loss, visual impairment dementia developmental delay early death EMG abnormalities [-] encephalopathy epilepsy hearing defect, deafness learning disability leukoencephalopathy mental retardation muscle weakness neuropathy nystagmus onset, adolescent onset, adulthood peripheral neuropathy proteinuria psychosis renal failure, acute/chronic retinitis pigmentosa retinopathy seizures short stature