Maternally-inherited mitochondrial dystonia

MedGen UID:: 907850
•Concept ID:: C4274074
•: Disease or Syndrome

Synonyms:	Maternally inherited mitochondrial dystonia; maternally-inherited mitochondrial dystonia; Mitochondrial DNA-related dystonia; mtDNA-related dystonia
SNOMED CT:	Maternally inherited mitochondrial dystonia (717054001)
Modes of inheritance:	Mitochondrial inheritance MedGen UID: 165802 •Concept ID: C0887941 • Genetic Function Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). Mitochondrial inheritance (Orphanet)

Monarch Initiative:	MONDO:0016806
Orphanet:	ORPHA254851

Definition

A rare neurological mitochondrial DNA-related disorder characterised clinically by progressive paediatric-onset dystonia with variable degrees of severity. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMaternally-inherited mitochondrial dystonia

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
- Maternally-inherited mitochondrial dystonia

Recent clinical studies

Etiology

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.

Elsharkawi I, Wongkittichote P, Daniel EJP, Starosta RT, Ueda K, Ng BG, Freeze HH, He M, Shinawi M
J Inherit Metab Dis 2023 Jan;46(1):92-100. Epub 2022 Oct 17 doi: 10.1002/jimd.12565. PMID: 36214423 Free PMC Article

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Diagnosis

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.

Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report.

Lahiri D, Sawale VM, Banerjee S, Dubey S, Roy BK, Das SK
J Med Case Rep 2019 Mar 6;13(1):63. doi: 10.1186/s13256-018-1936-0. PMID: 30837005 Free PMC Article

Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.

Kim IS, Ki CS, Park KJ
J Korean Med Sci 2010 Jan;25(1):180-4. Epub 2009 Dec 26 doi: 10.3346/jkms.2010.25.1.180. PMID: 20052369 Free PMC Article

Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation.

Tarnopolsky MA, Baker SK, Myint T, Maxner CE, Robitaille J, Robinson BH
Am J Med Genet A 2004 Feb 1;124A(4):372-6. doi: 10.1002/ajmg.a.20449. PMID: 14735584

Leber's disease and dystonia: a mitochondrial disease.

Novotny EJ Jr, Singh G, Wallace DC, Dorfman LJ, Louis A, Sogg RL, Steinman L
Neurology 1986 Aug;36(8):1053-60. doi: 10.1212/wnl.36.8.1053. PMID: 3736869

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Therapy

Lahiri D, Sawale VM, Banerjee S, Dubey S, Roy BK, Das SK
J Med Case Rep 2019 Mar 6;13(1):63. doi: 10.1186/s13256-018-1936-0. PMID: 30837005 Free PMC Article

Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation.

Brady L, Sadikovic B, Rupar CA, Tarnopolsky MA
Mitochondrion 2019 Mar;45:18-21. Epub 2018 Feb 1 doi: 10.1016/j.mito.2018.01.010. PMID: 29408632

Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.

Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S
Dev Med Child Neurol 2003 Dec;45(12):833-6. doi: 10.1017/s0012162203001543. PMID: 14667076

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