U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mitochondrial DNA-Associated Leigh Syndrome and NARP

MedGen UID:
433159
Concept ID:
CN043634
Disease or Syndrome
Genes (locations): MT-ATP6; MT-CO3; MT-ND1; MT-ND2; MT-ND3; MT-ND4; MT-ND5; MT-ND6; MT-TI; MT-TK; MT-TL1; MT-TL2; MT-TV; MT-TW

Disease characteristics

Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation. Leigh syndrome (or subacute necrotizing encephalomyelopathy) is characterized by onset of symptoms typically between ages three and 12 months, often following a viral infection. Decompensation (often with elevated lactate levels in blood and/or CSF) during an intercurrent illness is typically associated with psychomotor retardation or regression. Neurologic features include hypotonia, spasticity, movement disorders (including chorea), cerebellar ataxia, and peripheral neuropathy. Extraneurologic manifestations may include hypertrophic cardiomyopathy. About 50% of affected individuals die by age three years, most often as a result of respiratory or cardiac failure. NARP is characterized by proximal neurogenic muscle weakness with sensory neuropathy, ataxia, and pigmentary retinopathy. Onset of symptoms, particularly ataxia and learning difficulties, is often in early childhood. Individuals with NARP can be relatively stable for many years, but may suffer episodic deterioration, often in association with viral illnesses. [from GeneReviews]
Authors:
David R Thorburn  |  Joyeeta Rahman  |  Shamima Rahman   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...