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Disease Profile
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
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.
Unknown
Age of onset
Adolescent
ICD-10
G71.3
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)
MELAS; MELAS syndrome
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and
Symptoms
Many people with MELAS have a buildup of lactic acid in their bodies (lactic acidosis). This can lead to vomiting, abdominal pain, extreme fatigue, muscle weakness, and difficulty breathing. Involuntary muscle spasms, impaired muscle coordination,
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 | ||
Abnormal |
0008316 | |
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ] |
0002381 |
Aplasia/Hypoplasia of the cerebral white matter |
Absent/small cerebral white matter
Absent/underdeveloped cerebral white matter
[ more ] |
0012429 |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
0002353 | ||
Increased serum lactate | 0002151 | |
Lactic acidosis |
Increased lactate in body
|
0003128 |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
Muscle weakness |
Muscular weakness
|
0001324 |
Ragged-red muscle fibers | 0003200 | |
Stroke-like episode | 0002401 | |
Widened cerebral subarachnoid space | 0012766 | |
30%-79% of people have these symptoms | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
0001251 | ||
Basal ganglia calcification | 0002135 | |
Bilateral tonic-clonic seizure |
Grand mal seizures
|
0002069 |
Depressivity |
Depression
|
0000716 |
0001298 | ||
Fluctuations in consciousness | 0007159 | |
Focal-onset seizure |
Seizure affecting one half of brain
|
0007359 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Impaired visuospatial constructive cognition | 0010794 | |
Increased CSF lactate | 0002490 | |
Increased CSF |
0002922 | |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Myoclonus | 0001336 | |
Myopathy |
Muscle tissue disease
|
0003198 |
Recurrent paroxysmal headache | 0002331 | |
Sensorineural hearing impairment | 0000407 | |
Short attention span |
Poor attention span
Problem paying attention
[ more ] |
0000736 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
Vomiting |
Throwing up
|
0002013 |
5%-29% of people have these symptoms | ||
Agenesis of |
0001274 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Bipolar affective disorder |
Bipolar disorder
|
0007302 |
Cardiac conduction abnormality | 0031546 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Concentric hypertrophic |
0005157 | |
Constipation | 0002019 | |
Diarrhea |
Watery stool
|
0002014 |
Dilated cardiomyopathy |
Stretched and thinned heart muscle
|
0001644 |
Distal peripheral sensory neuropathy | 0007067 | |
Elevated brain lactate level by MRS | 0012707 | |
Erythema | 0010783 | |
Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ] |
0003546 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fever | 0001945 | |
Focal segmental glomerulosclerosis | 0000097 | |
Global |
0001263 | |
Hypertrichosis | 0000998 | |
Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Intestinal pseudo-obstruction | 0004389 | |
Mixed demyelinating and axonal polyneuropathy | 0007327 | |
Motor delay | 0001270 | |
Nephropathy | 0000112 | |
Optic atrophy | 0000648 | |
Peripheral axonal neuropathy | 0003477 | |
Personality changes |
Personality change
|
0000751 |
Pigmentary retinopathy | 0000580 | |