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necrotizing encephalomyelopathy, subacute, of Leigh, adult - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

necrotizing encephalomyelopathy, subacute, of Leigh, adult

MONDO:0008069

Also known as:Leigh syndrome, adult

Overview

GeneticsAutosomal dominant

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Bone pain, Gastric ulcer, Coarse facial features, and Cutis gyrata of scalp and 14 more.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Bone pain, Arthralgia, Osteolytic defects of the phalanges of the hand

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Diagnostic criteria for Leigh syndrome spectrum (LSS) have been published .

Suggestive Findings

Mitochondrial DNA (mtDNA)-associated LSS (mtDNA-LSS) should be suspected in probands with several of the following clinical, laboratory, and/or imaging findings.

Clinical findings

Progressive neurologic disease with developmental delay and neurodevelopmental regression

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for necrotizing encephalomyelopathy, subacute, of Leigh, adult. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluation Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with mitochondrial DNA-associated Leigh syndrome spectrum (mtDNA-LSS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 5.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 7. Mitochondrial DNA-Associated Leigh Syndrome Spectrum: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for necrotizing encephalomyelopathy, subacute, of Leigh, adult.

2 publications have been identified in PubMed for necrotizing encephalomyelopathy, subacute, of Leigh, adult. Research spans Case Report / Case Series (100%).

Recent Publications

Behzadi A (2025). [PMID: 39896705](https://pubmed.ncbi.nlm.nih.gov/39896705/). *Iran J Child Neurol*. [Case Report / Case Series]
Thaller M (2025). [PMID: 40190371](https://pubmed.ncbi.nlm.nih.gov/40190371/). *Neuroophthalmology*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:161700

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Clinical Guidance

Mitochondrial DNA-associated Leigh syndrome spectrum (mtDNA-LSS) is a continuum of progressive neurodegenerative disorders, with typical onset in infancy or early childhood of sudden neurodevelopmental regression. Individuals with LSS may have variable extraneurologic manifestations including gastrointestinal, cardiac, hepatic, renal, and endocrine disease. The clinical features of mtDNA-LSS are similar to those observed in individuals with nuclear gene-encoded Leigh syndrome spectrum (LSS). Clinically, it is difficult to distinguish mtDNA-LSS from nuclear gene-encoded LSS, and there are relatively few publications describing the full range of clinical features in mtDNA-LSS. The following description of the phenotypic features summarizes the more robust data on features of all individuals with LSS; specific information and references for mtDNA-LSS are included if available. Table 2. Mitochondrial DNA-Associated Leigh Syndrome Spectrum: Frequency of Select Features

Feature	% of Persons w/Feature	Comment
Developmental delay	70%	75%
Regression	~50%	Unknown3
Hypotonia	~60%	~65%
Dystonia	~35%	~30%
Ataxia	~30%	~50%
Spasticity	~40%	~50%
Muscle weakness	~30%	~75%
Peripheral neuropathy	~10%	~5%
Dysphagia	~25%	~80%
Epilepsy	~30%	~40%
Respiratory abnormalities	~30%	~35%
Sensorineural hearing loss	15%	15%
Ophthalmoplegia	~25%	~30%
Optic atrophy	~15%	~20%
Retinopathy	~10%	10%
Poor weight gain	~40%	~30%
Gastrointestinal manifestations	~25%	~25%
Cardiac manifestations	~15%	~20%
Hepatic manifestations	10%	~15%
Renal manifestations	5%	5%
Endocrine manifestations	5%	5%

Source: GeneReviews — "Mitochondrial DNA-Associated Leigh Syndrome Spectrum"

GeneReviews

Differential Diagnosis

Leigh syndrome spectrum (LSS) is most often caused by a pathogenic variant in a nuclear gene. Pathogenic variants in 98 nuclear genes have been associated with autosomal recessive, autosomal dominant, and X-linked nuclear gene-encoded LSS (see Causes of Nuclear Gene-Encoded Leigh Syndrome Spectrum). Other monogenic disorders that cause or resemble LSS are listed in . Table 4. Other Monogenic Disorders That Cause or Resemble Leigh Syndrome Spectrum

Key Feature	Gene(s)	Disorder	MOI
ADAR	ADAR-related Aicardi-Goutires syndrome	ARAD1	—
NUP62	NUP62-related infantile bilateral striatal necrosis (OMIM 605815)	AR Infection-induced acute encephalopathy	—
RANBP2	RANBP2-related susceptibility to infection-induced acute encephalopathy 3 (OMIM 608033)	AD Neurodegenerative /or neurodevelopmental disorders w/similar changes on neuroimaging	ATP7B
GAMT	GAMT deficiency (See Creatine Deficiency Disorders.)	AR GCDH	Glutaric acidemia type 1
MORC2	Developmental delay, impaired growth, dysmorphic facies, axonal neuropathy (OMIM 619090)	AD PANK2	Pantothenate kinase-associated neurodegeneration

Source: GeneReviews — "Mitochondrial DNA-Associated Leigh Syndrome Spectrum"

Kisho

necrotizing encephalomyelopathy, subacute, of Leigh, adult

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluation Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Neurologic

Pulmonology

Nutrition

Cognition

Musculoskeletal

Clinical Guidance

Therapies Under Investigation

Clinical Trials

necrotizing encephalomyelopathy, subacute, of Leigh, adult

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluation Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Neurologic

Pulmonology

Nutrition

Cognition

Musculoskeletal

Clinical Guidance

Therapies Under Investigation

Clinical Trials