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Disease Profile
Mitochondrial DNA-associated Leigh syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
Childhood
ICD-10
E88.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
MILS; Leigh disease, maternally inherited; Subacute necrotizing encephalomyelopathy maternally inherited;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of Krebs cycle metabolism | 0000816 | |
Increased CSF lactate | 0002490 | |
30%-79% of people have these symptoms | ||
Bilateral tonic-clonic |
Grand mal seizures
|
0002069 |
Chorea | 0002072 | |
Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
0001332 | ||
Episodic vomiting | 0002572 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Focal T2 hyperintense basal ganglia lesion | 0007183 | |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Generalized myoclonic seizure | 0002123 | |
Increased serum lactate | 0002151 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Lacticaciduria |
High urine lactic acid levels
|
0003648 |
Muscle weakness |
Muscular weakness
|
0001324 |
Ophthalmoparesis |
Weakness of muscles controlling eye movement
|
0000597 |
Pigmentary retinopathy | 0000580 | |
Sensorimotor neuropathy |
Nerve damage causing decreased feeling and movement
|
0007141 |
Severe global |
0011344 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
5%-29% of people have these symptoms | ||
Abnormal renal tubule morphology | 0000091 | |
Abnormal speech prosody | 0031434 | |
Apnea | 0002104 | |
Bulbar signs | 0002483 | |
Cardiac conduction abnormality | 0031546 | |
Demyelinating |
0007108 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Dilated |
Stretched and thinned heart muscle
|
0001644 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Episodic respiratory distress |
Episodic difficulty breathing
|
0004885 |
Fever | 0001945 | |
Hepatic failure |
Liver failure
|
0001399 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hyperalaninemia |
Increased blood alanine
Increased serum alanine
[ more ] |
0003348 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypertrophic cardiomyopathy |
Enlarged and thickened heart muscle
|
0001639 |
Hyperventilation |
Rapid breathing
|
0002883 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Hypothermia |
Abnormally low body temperature
|
0002045 |
Infantile spasms | 0012469 | |
Mitochondrial myopathy | 0003737 | |
Multiple glomerular cysts | 0100611 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Optic atrophy | 0000648 | |
Rod-cone dystrophy | 0000510 | |
Segmental peripheral demyelination/remyelination | 0003481 | |
Sensorineural hearing impairment | 0000407 | |
1%-4% of people have these symptoms | ||
Low plasma citrulline | 0003572 | |
Ragged-red muscle fibers | 0003200 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal pattern of respiration |
Abnormal respiratory patterns
Unusual breathing patterns
[ more ] |
0002793 |
0000007 | ||
0007305 | ||
Difficulty articulating speech
|
0001260 | |
Emotional lability |
Emotional instability
|
0000712 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global developmental delay | 0001263 | |
Hepatocellular necrosis |
Death of liver cells
|
0001404 |
Hypertrichosis | 0000998 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Lactic acidosis |
Increased lactate in body
|
0003128 |
0001427 | ||
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |